Amelogenesis imperfecta

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Amelogenesis imperfecta
B amelogenesis imperfecta.jpg
Amelogenesis imperfecta, hypoplastic type. Note the association of pitted enamel and open bite.
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Amelogenesis imperfecta (AI) is a group of congenital disorders, involving the abnormal formation of tooth enamel, the external layer of the crown of teeth. [1] Amelogenesis imperfecta can be unrelated to any systemic or generalized conditions or can be part of a syndromic condition. [1] [2] [3] [4] Healthy, fully formed enamel is approximately 96% mineral by weight and forms over months to years in humans, depending upon the tooth in question. [5]

Contents

Amelogenesis imperfecta typically occurs as a result of mutations in the genes that encode proteins directly involved in amelogenesis [1] , although there are some rare exceptions [6] . Knowledge of the specific functions of some of the proteins encoded by these genes is incomplete. In short, pathogenic variants in these genes prevent the process of amelogenesis from proceeding as it should, leading to amelogenesis imperfecta.

People with amelogenesis imperfecta may have teeth with thin or even absent enamel or enamel which is soft or brittle. Their remaining tooth enamel or tooth surface may be of abnormal color, for example yellow, brown or opaque white, and may be pitted. [2] Affected teeth have a higher risk for dental cavities and are likely to be hypersensitive to temperature changes. Teeth may exhibit rapid attrition post eruption and may have excessive calculus deposition due to pain upon brushing. [7]

History

Amelogenesis imperfecta was first recognised as a separate condition to dentinogenesis imperfecta in 1938. [8] There have been many attempts to classify sub types of amelogenesis imperfecta since 1945, first based on phenotype alone and then also on the underlying genetic defect. [9] [10] [2] The first gene to be identified for which pathogenic variants cause amelogenesis imperfecta was amelogenin X chromosome ( AMELX ) in 1991. [11] The first national genetic screen for amelogenesis imperfecta was developed in the UK and commissioned by the National Health Service in 2021. [12] Clinical decision flowcharts for the treatment of childhood amelogenesis imperfecta in the UK were published in 2025. [13]

The earliest known case of AI is in an extinct hominid species called Paranthropus robustus , with over a third of individuals displaying this condition. [14]

Genetics

Reviews of the genetics of amelogenesis imperfecta estimate that mutations in more than 90 genes may cause the condition when syndromic forms are included. [15] [4] Non-syndromic disease can be hard to define before genetic diagnosis since other associated health conditions, for example kidney calcification, are not always initially present nor identified and can sometimes develop later in life. [16]

Early research focused on study of the genes that encode the enamel matrix proteins (such as amelogenin (AMELX), enamelin (ENAM)) and the enamel proteases (matrix metalloproteinase 20 (MMP20) and kallikrein related peptidase 4 (KLK4)) to identify mutations through targeted Sanger sequencing. The modern era of massively parallel sequencing, with human disease gene identification through this methodology first published in 2009 [17] and in amelogenesis imperfecta specifically first published in 2013, [18] has accelerated gene discovery in AI, and research suggests that more genes for which damaging variants cause amelogenesis imperfecta remain to be identified. [1] [3]

Genes in which pathogenic variants cause amelogenesis imperfecta include, but are not limited to; AMELX, [11] ENAM , [19] AMBN, [20] AMTN, [21] ACP4 (originally published as ACPT), [22] MMP20 , [23] KLK4 , [24] FAM83H , [25] WDR72 , [26] ODAPH (originally published as C4orf26), [27] SLC24A4, [28] LAMB3, [18] ITGB6, [29] , FAM20A , [30] [31] [32] FAM20C , [33] COL17A1 , [34] [35] LTBP3 , [36] SP6 [37] and GPR68. [38]

Amelogenesis imperfecta is identified in families with disease segregating in autosomal recessive, autosomal dominant and X-linked inheritance patterns [1] [2] [3] [4] . Sporadic disease also occurs. Amelogenesis imperfecta caused by variants in some genes can display both recessive and dominant inheritance patterns (for example, AMBN). [39]

Cohort studies have shown that mutations in particular genes are more commonly identified in amelogenesis imperfecta than others; one study highlighted COL17A1, MMP20, FAM83H, ENAM and AMELX in one cohort of 181 patients (note that some individuals had been prescreened for variants in selected genes). [40] Another study highlighted AMELX, MMP20 and FAM83H as more commonly identified in patients with isolated amelogenesis imperfecta and LTBP3 and FAM20A in syndromic conditions involving amelogenesis imperfecta. [3]

Diagnosis

All teeth in both dentitions are affected by amelogenesis imperfecta, [1] although the primary teeth may appear less severely affected or amelogenesis imperfecta may be masked by poor oral hygiene and greater caries susceptibility in children and by the thinner enamel present in the primary teeth. [41] This diagnostic criterion of affecting all teeth of both dentitions is an important distinction between amelogenesis imperfecta and other more common conditions such as molar hypomineralisation and dental fluorosis, which are both influenced by the non-genetic factors during enamel development. [42]

In general, there are three distinct appearances (phenotypes) to enamel affected by amelogenesis imperfecta, which can be defined based on the thickness and hardness of enamel and reflect the stage at which amelogenesis failed, [2] together with a fourth category which includes changes to tooth shape. [43] Failure during the secretory stage results in hypoplastic (thin) enamel which is of similar hardness to healthy enamel. [44] Failure during the maturation stage results in hypocalcified (soft) or hypomature (brittle) enamel that may still be of similar thickness to healthy enamel before tooth eruption, but that wears away quickly. [44] The fourth category is a specific form of AI in which hypoplastic or hypomature enamel co-occurs with taurodontism, where teeth have smaller roots but the body of the tooth is enlarged. In reality all of these types overlap and mixed phenotypes can occur. [1] The degree of failure can also vary, resulting in phenotypes ranging from no enamel being formed at all to only very mild changes that may remain undiagnosed without the input of a dental specialist.

Therefore, AI can be broadly classified as follows, according to clinical appearance and dental radiography: [45]

Type 1 - Hypoplastic
Enamel of abnormal thickness due to malfunction in enamel matrix formation. Enamel is very thin but hard & translucent, and may have random pits & grooves. Condition is of autosomal dominant, autosomal recessive, or x-linked pattern. Enamel differs in appearance from dentine radiographically as normal functional enamel. [46]
Type 2 - Hypomaturation
Enamel has sound thickness, with a pitted appearance. It is less hard compared to normal enamel, and is prone to rapid wear, although not as intensely as Type 3 AI. Condition is of autosomal dominant, autosomal recessive, or x-linked pattern. Enamel appears to be comparable to dentine in its radiodensity on radiographs.
Type 3 - Hypocalcified
Enamel defect due to malfunction of enamel calcification, therefore enamel is of normal thickness but is extremely brittle, with an opaque/chalky presentation. Teeth are prone to staining and rapid wear, exposing dentine. Condition is of autosomal dominant and autosomal recessive pattern. Enamel appears less radioopaque compared to dentine on radiographs.
Type 4 - Hypomature hypoplastic enamel with taurodontism
Enamel has a variation in appearance, with mixed features from Type 1 and Type 2 AI. All Type 4 AI has taurodontism in common. Condition is of autosomal dominant pattern. Other common features may include an anterior open bite, [47] taurodontism, sensitivity of teeth.

Differential diagnosis would include dental fluorosis, molar-incisor hypomineralization, chronological disorders of tooth development. [2]

People with amelogenesis imperfecta may have teeth with abnormal colour, most often yellow, brown or white. Pitting may be present. [2] Teeth will be at higher risk of caries, may be hypersensitive to temperature changes and will experience rapid attrition. [48] Diagnosis is via physical examination and use of panoramic radiographs. Treatment aims to maintain function and aesthetics. [13]

It is important to note that some individuals with pathogenic variants in particular genes associated with AI may have other associated health conditions that are not immediately obvious without further investigations but that may progress to cause more serious disease. This is particularly true of individuals with mutations in family with sequence similarity 20 member A ( FAM20A ), where kidney calcification can occur. [15]

Within the UK, patients diagnosed with amelogenesis imperfecta are offered genetic testing carried out via NHS Genetic Medicine Service using the R340 panel test. [12] In the US, testing is available via independent laboratories including Prevention Genetics, [49] Fulgent Genetics, [50] Blueprint Genetics [51] and others. [15] In France, genetic testing is available via the GenoDENT panel. [3]

Treatment

X-ray showing lack of enamel opacity and a pathological loss of enamel in patient with amelogenesis imperfecta Amelogenesis.jpg
X-ray showing lack of enamel opacity and a pathological loss of enamel in patient with amelogenesis imperfecta

Preventive and restorative dental care is very important as well as considerations for esthetic issues since the crown are yellow from exposure of dentin due to enamel loss. [7] The main objectives of treatment is pain relief, preserving patient's remaining dentition, and to treat and preserve the patient's occlusal vertical height. [46]

Many factors are to be considered to decide on treatment options such as the classification and severity of AI, the patient's social history, clinical findings etc. There are many classifications of AI but the general management of this condition is similar.[ citation needed ]

Full-coverage crowns are sometimes being used to compensate for the abraded enamel in adults, tackling the sensitivity the patient experiences. Usually stainless steel crowns are used in children which may be replaced by porcelain once they reach adulthood. [52] These aid with maintaining occlusal vertical dimension.

Aesthetics may be addressed via placement of composite or porcelain veneers, depending on patient factors e.g. age. If the patient has primary or mixed dentition, lab-made composite veneers may be provided temporarily, to be replaced by permanent porcelain veneers once the patient has stabilized permanent dentition. The patient's oral hygiene and diet should be controlled as well as they play a factor in the success of retaining future restorations.[ citation needed ]

In the worst-case scenario, the teeth may have to be extracted and implants or dentures are required. Loss of nerves in the affected teeth may occur.

Evidence based treatment is lacking for amelogenesis imperfecta, however a UK based consensus on treatment of childhood amelogenesis imperfecta has been published. [13]

The psychological and societal impacts of amelogenesis imperfecta are under-appreciated and are often not formally addressed, but amelogenesis imperfecta can be associated with embarrassment and social avoidance. [53] [15] Patients with AI (and relevant healthcare providers) also face increased dental treatments and costs. [54]

Epidemiology

The exact prevalence of amelogenesis imperfecta is uncertain and may vary. Estimates vary widely, from 1 in 233 people in Turkey, [55] 1 in 714 people in a study of an isolated Swedish population, [56] 1 in 4,000 people in Sweden [57] 1 in 1000 in Argentina, [58] to 1 in 14,000 people in the United States. [59] The prevalence of amelogenesis imperfecta in non-human animals has not been explored, however its presence has been noted. [60]

References

  1. 1 2 3 4 5 6 7 Smith, Claire E. L.; Poulter, James A.; Antanaviciute, Agne; Kirkham, Jennifer; Brookes, Steven J.; Inglehearn, Chris F.; Mighell, Alan J. (2017-06-26). "Amelogenesis Imperfecta; Genes, Proteins, and Pathways". Frontiers in Physiology. 8. doi: 10.3389/fphys.2017.00435 . ISSN   1664-042X. PMC   5483479 . PMID   28694781.
  2. 1 2 3 4 5 6 7 Crawford, Peter JM; Aldred, Michael; Bloch-Zupan, Agnes (4 April 2007). "Amelogenesis imperfecta". Orphanet Journal of Rare Diseases. 2 (1). doi: 10.1186/1750-1172-2-17 . ISSN   1750-1172. PMC   1853073 . PMID   17408482.
  3. 1 2 3 4 5 Bloch-Zupan, Agnes; Rey, Tristan; Jimenez-Armijo, Alexandra; Kawczynski, Marzena; Kharouf, Naji; O-Rare consortium; Dure-Molla, Muriel de La; Noirrit, Emmanuelle; Hernandez, Magali; Joseph-Beaudin, Clara; Lopez, Serena; Tardieu, Corinne; Thivichon-Prince, Béatrice; ERN Cranio Consortium; Dostalova, Tatjana (2023-05-09). "Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification". Frontiers in Physiology. 14. doi: 10.3389/fphys.2023.1130175 . ISSN   1664-042X. PMC   10205041 . PMID   37228816.
  4. 1 2 3 Wright, John Timothy (2023-02-22). "Enamel Phenotypes: Genetic and Environmental Determinants". Genes. 14 (3): 545. doi: 10.3390/genes14030545 . ISSN   2073-4425. PMC   10048525 . PMID   36980818.
  5. ↑ TenCate, Arnold Richard; Nanci, Antonio (2013). Nanci, Antonio (ed.). Ten Cate's oral histology: development, structure, and function (Eighth ed.). St. Louis, Missouri: Elsevier Mosby. ISBN   978-0-323-07846-7.
  6. ↑ Gruper, Yael; Wolff, Anette S. B.; Glanz, Liad; Spoutil, Frantisek; Marthinussen, Mihaela Cuida; Osickova, Adriana; Herzig, Yonatan; Goldfarb, Yael; Aranaz-Novaliches, Goretti; Dobeš, Jan; Kadouri, Noam; Ben-Nun, Osher; Binyamin, Amit; Lavi, Bar; Givony, Tal (2023-12-21). "Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease". Nature. 624 (7992): 653–662. doi:10.1038/s41586-023-06776-0. ISSN   0028-0836.
  7. 1 2 American Academy of Pediatric Dentistry, Guideline on Dental Management of Heritable Dental Developmental Anomalies, 2013, http://www.aapd.org/media/Policies_Guidelines/G_OHCHeritable.pdf
  8. ↑ Finn, Sidney B. (1938). "Hereditary Opalescent Dentin. I. An Analysis of the Literature on Hereditary Anomalies of Tooth Color". The Journal of the American Dental Association and The Dental Cosmos. 25 (8): 1240–1249. doi:10.14219/jada.archive.1938.0205.
  9. ↑ Weinmann, Joseph P.; Svoboda, John F.; Woods, Ralph W. (April 1945). "Hereditary Disturbances of Enamel Formation and Calcification**From the Research Department, Loyola University, School of Dentistry, Chicago College of Dental Surgery, and the Department of Health and Welfare, Bureau of Health, Division of Dental Health, Augusta, Maine". The Journal of the American Dental Association. 32 (7): 397–418. doi:10.14219/jada.archive.1945.0063.
  10. ↑ Aldred, Mj; Savarirayan, R; Crawford, Pjm (January 2003). "Amelogenesis imperfecta: a classification and catalogue for the 21st century". Oral Diseases. 9 (1): 19–23. doi:10.1034/j.1601-0825.2003.00843.x. ISSN   1354-523X.
  11. 1 2 Lagerström, Maria; Dahl, Niklas; Nakahori, Yutaka; Nakagome, Yasuo; Bäckman, Birgitta; Landegren, Ulf; Pettersson, Ulf (August 1991). "A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)". Genomics. 10 (4): 971–975. doi:10.1016/0888-7543(91)90187-J.
  12. 1 2 "Amelogenesis imperfecta (Version 3.3)". panelapp.genomicsengland.co.uk. Archived from the original on 2024-05-28. Retrieved 2026-02-17.
  13. 1 2 3 Lakhani, S.; Monteiro, J.; Agel, M.; Lyne, A.; Somani, C.; Balmer, R.; Mighell, A.; O’Donnell, K.; Lafferty, F.; McCann, C.; Parekh, S. (2025). "A UK-based consensus on clinical decision flowcharts for managing childhood amelogenesis imperfecta in the permanent dentition". European Archives of Paediatric Dentistry. doi:10.1007/s40368-025-01127-1. ISSN   1818-6300.
  14. ↑ Towle, Ian; Irish, Joel D. (2019). "A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus" (PDF). Journal of Human Evolution. 129: 54–61. Bibcode:2019JHumE.129...54T. doi:10.1016/j.jhevol.2019.01.002. PMID   30904040. S2CID   85502058.
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  16. ↑ Baker, Amina; Al Tarrass, Mohammad; Chatziantoniou, Christos; Kozyraki, Renata (2025). "FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes". Matrix Biology. 142: 58–85. doi:10.1016/j.matbio.2025.11.002. PMID   41241263.
  17. ↑ Ng, Sarah B; Buckingham, Kati J; Lee, Choli; Bigham, Abigail W; Tabor, Holly K; Dent, Karin M; Huff, Chad D; Shannon, Paul T; Jabs, Ethylin Wang; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael J (January 2010). "Exome sequencing identifies the cause of a mendelian disorder". Nature Genetics. 42 (1): 30–35. doi:10.1038/ng.499. ISSN   1061-4036. PMC   2847889 . PMID   19915526.
  18. 1 2 Poulter JA, El-Sayed W, Shore RC, Kirkham J, Inglehearn CF, Mighell AJ (2014). "Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta". European Journal of Human Genetics. 22 (1): 132–5. doi:10.1038/ejhg.2013.76. PMC   3865405 . PMID   23632796.
  19. ↑ Rajpar, M. H. (2001-08-01). "Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta". Human Molecular Genetics. 10 (16): 1673–1677. doi:10.1093/hmg/10.16.1673. PMID   11487571.
  20. ↑ Poulter, James A.; Murillo, Gina; Brookes, Steven J.; Smith, Claire E. L.; Parry, David A.; Silva, Sandra; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J. (2014). "Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta". Human Molecular Genetics. 23 (20): 5317–5324. doi:10.1093/hmg/ddu247. ISSN   0964-6906. PMC   4168819 . PMID   24858907.
  21. ↑ Smith, Claire E.L.; Murillo, Gina; Brookes, Steven J.; Poulter, James A.; Silva, Sandra; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J. (2016). "Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta". Human Molecular Genetics. 25 (16): 3578–3587. doi:10.1093/hmg/ddw203. ISSN   0964-6906. PMC   5179951 . PMID   27412008.
  22. ↑ Seymen, Figen; Kim, Youn Jung; Lee, Ye Ji; Kang, Jenny; Kim, Tak-Heun; Choi, Hwajung; Koruyucu, Mine; Kasimoglu, Yelda; Tuna, Elif Bahar; Gencay, Koray; Shin, Teo Jeon; Hyun, Hong-Keun; Kim, Young-Jae; Lee, Sang-Hoon; Lee, Zang Hee (2016). "Recessive Mutations in ACPT , Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta". The American Journal of Human Genetics. 99 (5): 1199–1205. doi:10.1016/j.ajhg.2016.09.018. PMC   5097978 . PMID   27843125.
  23. ↑ Kim, J-W; Simmer, J P; Hart, T C; Hart, P S; Ramaswami, M D; Bartlett, J D; Hu, J C-C (2005). "MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta". Journal of Medical Genetics. 42 (3): 271–275. doi:10.1136/jmg.2004.024505. ISSN   0022-2593. PMC   1736010 . PMID   15744043.
  24. ↑ Hart, P S; Hart, T C; Michalec, M D; Ryu, O H; Simmons, D; Hong, S; Wright, J T (2004). "Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta". Journal of Medical Genetics. 41 (7): 545–549. doi:10.1136/jmg.2003.017657. ISSN   0022-2593. PMC   1735847 . PMID   15235027.
  25. ↑ Kim, Jung-Wook; Lee, Sook-Kyung; Lee, Zang Hee; Park, Joo-Cheol; Lee, Kyung-Eun; Lee, Myoung-Hwa; Park, Jong-Tae; Seo, Byoung-Moo; Hu, Jan C.-C.; Simmer, James P. (2008). "FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta". The American Journal of Human Genetics. 82 (2): 489–494. doi:10.1016/j.ajhg.2007.09.020. PMC   2427219 . PMID   18252228.
  26. ↑ El-Sayed, Walid; Parry, David A.; Shore, Roger C.; Ahmed, Mushtaq; Jafri, Hussain; Rashid, Yasmin; Al-Bahlani, Suhaila; Al Harasi, Sharifa; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J. (2009). "Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta". The American Journal of Human Genetics. 85 (5): 699–705. doi:10.1016/j.ajhg.2009.09.014. PMC   2775821 . PMID   19853237.
  27. ↑ Parry, David; Brookes, Steven; Logan, Clare; Poulter, James; El Sayed, Walid; Al Bahlani, Suhaila; Al Harasi, Sharifa; Sayed, Jihad; Raïf, El Mostafa; Shore, Roger; Dashash, Mayssoon; Barron, Martin; Morgan, Joanne; Carr, Ian; Taylor, Graham (2012). "Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta". The American Journal of Human Genetics. 91 (3): 565–571. doi:10.1016/j.ajhg.2012.07.020. PMC   3511980 . PMID   22901946.
  28. ↑ Parry, David; Poulter, James; Logan, Clare; Brookes, Steven; Jafri, Hussain; Ferguson, Christopher; Anwari, Babra; Rashid, Yasmin; Zhao, Haiqing; Johnson, Colin; Inglehearn, Chris; Mighell, Alan (2013). "Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta". The American Journal of Human Genetics. 92 (2): 307–312. doi:10.1016/j.ajhg.2013.01.003. PMC   3567274 . PMID   23375655.
  29. ↑ Poulter, James A.; Brookes, Steven J.; Shore, Roger C.; Smith, Claire E. L.; Abi Farraj, Layal; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J. (2014-04-15). "A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta". Human Molecular Genetics. 23 (8): 2189–2197. doi:10.1093/hmg/ddt616. ISSN   1460-2083. PMC   3959822 . PMID   24319098.
  30. ↑ O'Sullivan, James; Bitu, Carolina; Daly, Sarah; Urquhart, Jill; Barron, Martin; Bhaskar, Sanjeev; Martelli Júnior, Hercilio; dos Santos Neto, Pedro; Mansilla, Maria; Murray, Jeffrey; Coletta, Ricardo; Black, Graeme; Dixon, Michael (2011). "Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome". The American Journal of Human Genetics. 88 (5): 616–620. doi:10.1016/j.ajhg.2011.04.005. PMC   3146735 . PMID   21549343.
  31. ↑ Wang, Shih-Kai; Aref, Parissa; Hu, Yuanyuan; Milkovich, Rachel N.; Simmer, James P.; El-Khateeb, Mohammad; Daggag, Hinda; Baqain, Zaid H.; Hu, Jan C-C. (2013-02-28). Spinner, Nancy B. (ed.). "FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)". PLOS Genetics. 9 (2): e1003302. doi: 10.1371/journal.pgen.1003302 . ISSN   1553-7404. PMC   3585120 . PMID   23468644.{{cite journal}}: CS1 maint: article number as page number (link)
  32. ↑ Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K. (2013-02-23). "Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations". Nephron Physiology. 122 (1–2): 1–6. doi:10.1159/000349989. ISSN   1660-2137. PMC   3782194 . PMID   23434854.
  33. ↑ Simpson, Ma; Scheuerle, A; Hurst, J; Patton, Ma; Stewart, H; Crosby, Ah (2009). "Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia". Clinical Genetics. 75 (3): 271–276. doi:10.1111/j.1399-0004.2008.01118.x. ISSN   0009-9163. PMID   19250384.
  34. ↑ McGrath, John (1996). "Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition". The American Journal of Pathology. 148 (6): 1787–1796 – via Europe PMC.
  35. ↑ Hany, Ummey; Watson, Christopher M; Liu, Lu; Smith, Claire E L; Harfoush, Asmaa; Poulter, James A; Nikolopoulos, Georgios; Balmer, Richard; Brown, Catriona J; Patel, Anesha; Simmonds, Jenny; Charlton, Ruth; Acosta de Camargo, María Gabriela; Rodd, Helen D; Jafri, Hussain (2024). "Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta". Journal of Medical Genetics. 61 (4): 347–355. doi:10.1136/jmg-2023-109510. ISSN   0022-2593. PMC   10982616 . PMID   37979963.
  36. ↑ Huckert, Mathilde; Stoetzel, Corinne; Morkmued, Supawich; Laugel-Haushalter, Virginie; Geoffroy, Véronique; Muller, Jean; Clauss, François; Prasad, Megana K.; Obry, Frédéric; Raymond, Jean Louis; Switala, Marzena; Alembik, Yves; Soskin, Sylvie; Mathieu, Eric; Hemmerlé, Joseph (2015-06-01). "Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta". Human Molecular Genetics. 24 (11): 3038–3049. doi:10.1093/hmg/ddv053. ISSN   1460-2083. PMC   4424950 . PMID   25669657.
  37. ↑ Smith, Claire E L; Whitehouse, Laura L E; Poulter, James A; Wilkinson Hewitt, Laura; Nadat, Fatima; Jackson, Brian R; Manfield, Iain W; Edwards, Thomas A; Rodd, Helen D; Inglehearn, Chris F; Mighell, Alan J (2020-06-03). "A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta". Human Molecular Genetics. 29 (9): 1417–1425. doi:10.1093/hmg/ddaa041. ISSN   0964-6906. PMC   7268548 . PMID   32167558.
  38. ↑ Parry, David A.; Smith, Claire E.L.; El-Sayed, Walid; Poulter, James A.; Shore, Roger C.; Logan, Clare V.; Mogi, Chihiro; Sato, Koichi; Okajima, Fumikazu; Harada, Akihiro; Zhang, Hong; Koruyucu, Mine; Seymen, Figen; Hu, Jan C.-C.; Simmer, James P. (2016). "Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta". The American Journal of Human Genetics. 99 (4): 984–990. doi:10.1016/j.ajhg.2016.08.020. PMC   5065684 . PMID   27693231.
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  60. ↑ Towle I, Irish JD, De Groote I (April 2018). "Amelogenesis imperfecta in the dentition of a wild chimpanzee" (PDF). Journal of Medical Primatology. 47 (2): 117–119. doi:10.1111/jmp.12323. PMID   29112236. S2CID   3801451.
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