FOXG1-Related Disorder

Last updated
FOXG1 syndrome
Other namesFOXG1-related epileptic-dyskinetic encephalopathy, Rett syndrome, congenital variant. [1] [2]
Autosomal dominant - en.svg
FOXG1 syndrome is inherited in an Autosomal dominant fashion
Specialty Medical genetics, Neurology
Usual onsetFrom birth
CausesMutation in a gene FOXG1
Differential diagnosis Rett syndrome, CDKL5 deficiency disorder, Angelman syndrome
Treatment Physical therapy, Anti-dyskinetic medications, Antiseizure medication
Frequency1:30 000 live births

FOXG1 syndrome (sometimes FOXG1-Related Disorder) is a rare genetic disorder which is caused by mutation in a gene FOXG1. [3] The main signs of this disease are: severe intellectual disability, microcephaly, epilepsy, and hyperkinetic-dyskinetic movement disorder and hypotonia with brain structure anomalies. [4] [5]

Contents

FOXG1 syndrome is inherited in autosomal dominant fashion. [6] The syndrome affects about 1/30 000 births, with about 1200 cases having been reported as of January 1, 2025. [7]

Symptoms

Symptoms of FOXG1 syndrome are: [8]

Very frequent

Frequent

Occasional

Very rare

Diagnosis

There are diagnostic criterias to diagnose FOXG1 syndrome: [9]

Major diagnostic criteria inlcudes:

Minor diagnostic includes:

Imaging criteria of this disorder are:

Cause

FOXG1 syndrome is caused by heterozygous mutations in the gene FOXG1. This gene provides instructions for making the protein Forkhead box protein G1 (FOXG1). [6] [10]

Most people with FOXG1 syndrome have a new mutation (which means that mutation is new and none of the parents have it), although there have been cases of person inheriting the pathogenic variant of FOXG1 from a healthy parent due to somatic mosaicism. [11] [12] [13] [14]

Pathophysiology

The FOXG1 protein is widely expressed in brain and is important for cortical development. [15]

Cortical Stem Cell Growth

One of the FOXG1 function is to regulate cell cycle of the neural progenitor cell, through activation of the proliferation and hindering the precoucious neural differentiation, in case of loss of the FOXG1, neural stem cell's cell cycle gets legnthened and exits the cell cycle. [16] [17] [18]

FOXG1 antagonizes the FOXO/SMAD pathway, which stimulates cortical neuron differentiation, because of antagonization, there is the reduced expression of p21, consequently low level of the p21 promotes stem cell pool expansion and prevents early exit from the cell cycle. [19] [20]

Induction of Cortical Laminar Subtypes by FOXG1

Alongside the expansion of the progenitor cell pool through control of cell cycle regulators, the onset of FOXG1 expression in the forming forebrain activates a series of genetic and molecular processes in corticogenesis. [15] These events include dorsoventral patterning of the telencephalon to designate future compartments and specifying cell types through global switches in gene expression of targeted genes. The activation of FOXG1 and the early patterning of the forebrain seems to be primarily maintained across vertebrates, where compartmentalization of the forebrain is established by reciprocal interactions between morphogens and transcription factors. In the telencephalic territory, SIX3 expressed in the anterior neural plate, which competes with FOXG1 expression, whereby FGF8 which is expressd in the anterior neural ridge induces FOXG1 and helps to organize the telencephalic region. [21] [22] [23]

When the telencephalon's compartments have been established, FOXG1 regulates neuron specification. Progenitor cells divide asymmetrically and begin producing TBR1-expressing neurons, which become layer 1 and layer 6 neurons at the surface and the deepest regions of the cortical plate. Progenitor cells further produce layer 5 FEZF2- and BCL11B/CTIP2-expressing corticospinal projection cells, followed by RORβ-expressing sensory input cells, and then layer 2/3 SATB2 and POU3F2/BRN2-expressing callosal projection neurons. These neurons incorporate into the cortical plate through an inside-out layering pattern, where more recently generated neurons migrate past those that were born earlier, settling in the superficial region. Notably, while FOXG1 is expressed in many of the cortical progenitor cells and neurons, its function differs between subtypes and varies in a spatiotemporal manner (by progenitor cell proliferation and neuronal differentiation mechanism). [24] [25] [26]

The onset of FOXG1 expression in progenitor cells terminates the production of the earliest born neurons, in other words, Cajal-Retzius cells, through direct inhibition of a major transcriptional network. This network comprises, as shown by transcriptome analysis and FOXG1-ChIP sequencing, TBR1, DMRTA1, EBF2, and EBF3. [27] [28] [29]

The timely downregulation of FOXG1 by EGR2, a target of TGFβ, occurs in the lower intermediate zone where cells are transitioning out of the cell cycle, leading to the activation of Nr2f1/COUP-TFI, which enables layer 4 cell competence. In contrast, the absence of EGR2 target sites raises Foxg1 expression and facilitates the development of SATB2/BRN2-positive callosal projection neurons. [26] Since FOXG1 haploinsufficiency leads to agenesis of the corpus callosum in both humans and mice due to impaired upper-layer projection neuron development, these findings suggest that having two functional copies of the Foxg1 gene is essential for regulating the production of cortical neurons and the development of axons necessary for the formation of cortical circuits typical of FOXG1 disorders. [30] [31] [32]

Role of FOXG1 in neural plasticity

According to one study, FOXG1 is expressed in both the region where neurogenesis takes place and differentiated neurons of the adult cerebral cortex, indicating its roles in cognitive skill and neural plasticity. [33] By altering the expression levels of FOXG1 in primary cultured neurons influences the development of dendrites, with increased levels of FOXG1 leading to enhanced dendritic length and branching of neurites, partly by positive regulatory mechanisms of HES1 and CREB1 gene expression. [34]

In the adult hippocampus, a reduction in FOXG1 gene dosage results in a gradual decline in the quantity of dentate granule cells. [33] In one study, the total elimination of Foxg1 in mature neurons was achieved through the use of an inducible Camk2α-CreER along with floxed Foxg1 mice. This deletion of Foxg1 led to impairments in spatial learning and memory, evaluated through the Morris water maze, in addition to a notable decrease in performance on both the contextual and cued fear conditioning tests. [35]

Consquently, in FOXG1 syndrome, these mechanism (as mentioned above) are disrupted. [15]

Treatment

This disease dosn't have a cure. [36] But some of the symptoms can be managed. [36] A multidisciplinary team is generally employed to treat the person's symptoms during their lifetime. The team might include specialist in: neurogenetics, genetic counseling, rehabilitation medicine, orthopedics, gastroenterology, physical therapy and ophthalmology. [37]

Seizures can be managed standartly by antiseizure medication (ASMs), common ASMs include clobazam, valproic acid, vigabatrin, felbamate, lamotrigine and steroids. [38] Although, there isn't universal treatment of the seizures in FOXG1 syndrome. [39]

Dyskinetic movement disorder can be managed through anti-dyskinetic medications (for example: pimozide, tetrabenazine, clonidine, etc), Although no single drug has been found to be effective for this disorder. [40]

Physical therapy is useful to make muscle tone better, it is also useful for strength improvement. [37] [41]

Research

In 2024, there was a study, where postnatal mouse was injected with AAV9-FOXG1 via ICV injection, and results showed improvement in corpus callosum agenesis, also it showed recovery of the dentate gyrus morphology, increased oligodendrocyte numbers with myelin restoration. [42]

Prognosis

Information regarding the long-term course of FOXG1 syndrome is limited, and it is unclear whether lifespan is affected or not. [36] Although one of the oldest individual with that disorder is 32 years old (at the time of article publication). [43]

History

Thee first case of FOXG1 was identified by Shoichet et al in 7-year old female, who had de-novo translocation between chromosome 2 and chromosome 14, which affected FOXG1 gene. [30] Later, in 2008, Ariani et al. identified 2 female patients (First was 22 years and second one was 7 years old, at the time of article publication) with FOXG1 syndrome, although at the time of publication, it was named "Rett syndrome, congenital variant", because of similiraties between Rett syndrome and FOXG1 syndrome. [4] But in 2011, Kortüm F et al. designated the name "FOXG1 syndrome", because of the symptomatic differences between Rett syndrome and FOXG1 syndrome. [44]

See also

References

  1. ↑ "FORKHEAD BOX G1; FOXG1". OMIM (Online Mendelian Inheritance In Man).
  2. ↑ "FOXG1 syndrome". Orphanet.
  3. ↑ Allou, Lila; Lambert, Laetitia; Amsallem, Daniel; Bieth, Eric; Edery, Patrick; Destrée, Anne; Rivier, François; Amor, David; Thompson, Elizabeth; Nicholl, Julian; Harbord, Michael; Nemos, Christophe; Saunier, Aline; Moustaïne, Aissa; Vigouroux, Adeline (December 2012). "14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements". European Journal of Human Genetics. 20 (12): 1216–1223. doi:10.1038/ejhg.2012.127. ISSN   1476-5438. PMC   3499785 . PMID   22739344.
  4. 1 2 Ariani, Francesca; Hayek, Giuseppe; Rondinella, Dalila; Artuso, Rosangela; Mencarelli, Maria Antonietta; Spanhol-Rosseto, Ariele; Pollazzon, Marzia; Buoni, Sabrina; Spiga, Ottavia; Ricciardi, Sara; Meloni, Ilaria; Longo, Ilaria; Mari, Francesca; Broccoli, Vania; Zappella, Michele (2008-07-11). "FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome". The American Journal of Human Genetics. 83 (1): 89–93. doi:10.1016/j.ajhg.2008.05.015. ISSN   0002-9297. PMC   2443837 . PMID   18571142.
  5. ↑ Jang, Han Na; Kim, Taeho; Jung, Ah Young; Lee, Beom Hee; Yum, Mi-Sun; Ko, Tae-Sung (2021-11-24). "Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly". Medicine. 100 (47): e27949. doi:10.1097/MD.0000000000027949. PMC   8615421 . PMID   34964776.
  6. 1 2 "FOXG1 syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2025-04-02.
  7. ↑ "What is FOXG1 syndrome?". FOXG1 Research Foundation. Retrieved 2025-04-03.
  8. ↑ "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-04-02.
  9. ↑ "Expanding FOXG1 syndrome phenotype". www.elsevier.es. Retrieved 2025-04-02.
  10. ↑ Mitter, Diana; Pringsheim, Milka; Kaulisch, Marc; Plümacher, Kim Sarah; Schröder, Simone; Warthemann, Rita; Abou Jamra, Rami; Baethmann, Martina; Bast, Thomas; Büttel, Hans-Martin; Cohen, Julie S.; Conover, Elizabeth; Courage, Carolina; Eger, Angelika; Fatemi, Ali (January 2018). "FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants". Genetics in Medicine. 20 (1): 98–108. doi:10.1038/gim.2017.75. ISSN   1530-0366. PMID   28661489.
  11. ↑ Brockmann, Knut; Staudt, Martin (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "FOXG1 Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID   38843374 , retrieved 2025-04-02
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  13. ↑ Diebold, B.; Délepine, C.; Nectoux, J.; Bahi-Buisson, N.; Parent, P.; Bienvenu, T. (2014). "Somatic mosaicism for a mutation: diagnostic implication". Clinical Genetics. 85 (6): 589–591. doi:10.1111/cge.12212. ISSN   1399-0004. PMID   24766421.
  14. ↑ Papandreou, Apostolos; Schneider, Ruth B.; Augustine, Erika F.; Ng, Joanne; Mankad, Kshitij; Meyer, Esther; McTague, Amy; Ngoh, Adeline; Hemingway, Cheryl; Robinson, Robert; Varadkar, Sophia M.; Kinali, Maria; Salpietro, Vincenzo; O'Driscoll, Margaret C.; Basheer, S. Nigel (2016-05-10). "Delineation of the movement disorders associated with FOXG1 mutations". Neurology. 86 (19): 1794–1800. doi:10.1212/WNL.0000000000002585. PMC   4862244 . PMID   27029630.
  15. 1 2 3 Hou, Pei-Shan; hAilín, Darren Ó; Vogel, Tanja; Hanashima, Carina (2020-02-25). "Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders". Frontiers in Cellular Neuroscience. 14: 35. doi: 10.3389/fncel.2020.00035 . ISSN   1662-5102. PMC   7052011 . PMID   32158381.
  16. ↑ https://www.cell.com/neuron/pdf/0896-6273(95)90262-7.pdf?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2F0896627395902627%3Fshowall%3Dtrue
  17. ↑ Martynoga, Ben; Morrison, Harris; Price, David J.; Mason, John O. (2005-07-01). "Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis". Developmental Biology. 283 (1): 113–127. doi:10.1016/j.ydbio.2005.04.005. ISSN   0012-1606. PMID   15893304.
  18. ↑ Hanashima, Carina; Shen, Lijian; Li, Suzanne C.; Lai, Eseng (2002-08-01). "Brain Factor-1 Controls the Proliferation and Differentiation of Neocortical Progenitor Cells through Independent Mechanisms". Journal of Neuroscience. 22 (15): 6526–6536. doi:10.1523/JNEUROSCI.22-15-06526.2002. ISSN   0270-6474. PMC   6758167 . PMID   12151532.
  19. ↑ Vezzali, Riccardo; Weise, Stefan Christopher; Hellbach, Nicole; Machado, Venissa; Heidrich, Stefanie; Vogel, Tanja (2016-05-21). "The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons". Oncotarget. 7 (25): 37436–37455. doi:10.18632/oncotarget.9545. ISSN   1949-2553. PMC   5122323 . PMID   27224923.
  20. ↑ Seoane, Joan; Le, Hong-Van; Shen, Lijian; Anderson, Stewart A.; Massagué, Joan (2004-04-16). "Integration of Smad and Forkhead Pathways in the Control of Neuroepithelial and Glioblastoma Cell Proliferation". Cell. 117 (2): 211–223. doi:10.1016/S0092-8674(04)00298-3. ISSN   0092-8674. PMID   15084259.
  21. ↑ Sharpe, Paul T. (1995-01-01). "Homeobox Genes and Orofacial Development". Connective Tissue Research. 32 (1–4): 17–25. doi:10.3109/03008209509013701. ISSN   0300-8207. PMID   7554914.
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  23. ↑ Lagutin, Oleg V.; Zhu, Changqi C.; Kobayashi, Daisuke; Topczewski, Jacek; Shimamura, Kenji; Puelles, Luis; Russell, Helen R. C.; McKinnon, Peter J.; Solnica-Krezel, Lilianna; Oliver, Guillermo (2003-02-01). "Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development". Genes & Development. 17 (3): 368–379. doi:10.1101/gad.1059403. ISSN   0890-9369. PMC   195989 . PMID   12569128.
  24. ↑ Hanashima, Carina; Li, Suzanne C.; Shen, Lijian; Lai, Eseng; Fishell, Gord (2004-01-02). "Foxg1 Suppresses Early Cortical Cell Fate". Science. 303 (5654): 56–59. Bibcode:2004Sci...303...56H. doi:10.1126/science.1090674. PMID   14704420.
  25. ↑ Toma, Kenichi; Kumamoto, Takuma; Hanashima, Carina (2014-09-24). "The Timing of Upper-Layer Neurogenesis Is Conferred by Sequential Derepression and Negative Feedback from Deep-Layer Neurons". Journal of Neuroscience. 34 (39): 13259–13276. doi:10.1523/JNEUROSCI.2334-14.2014. ISSN   0270-6474. PMC   6608336 . PMID   25253869.
  26. 1 2 Hou, Pei-Shan; Miyoshi, Goichi; Hanashima, Carina (2019-08-08). "Sensory cortex wiring requires preselection of short- and long-range projection neurons through an Egr-Foxg1-COUP-TFI network". Nature Communications. 10 (1): 3581. Bibcode:2019NatCo..10.3581H. doi:10.1038/s41467-019-11043-w. ISSN   2041-1723. PMC   6687716 . PMID   31395862.
  27. ↑ Kumamoto, Takuma; Toma, Ken-ichi; Gunadi; McKenna, William L.; Kasukawa, Takeya; Katzman, Sol; Chen, Bin; Hanashima, Carina (2013-03-28). "Foxg1 Coordinates the Switch from Nonradially to Radially Migrating Glutamatergic Subtypes in the Neocortex through Spatiotemporal Repression". Cell Reports. 3 (3): 931–945. doi:10.1016/j.celrep.2013.02.023. ISSN   2211-1247. PMC   3648982 . PMID   23523356.
  28. ↑ Hanashima, Carina; Li, Suzanne C.; Shen, Lijian; Lai, Eseng; Fishell, Gord (2004-01-02). "Foxg1 Suppresses Early Cortical Cell Fate". Science. 303 (5654): 56–59. Bibcode:2004Sci...303...56H. doi:10.1126/science.1090674. PMID   14704420.
  29. ↑ Hanashima, Carina; Fernandes, Marie; Hebert, Jean M.; Fishell, Gord (2007-10-10). "The Role of Foxg1 and Dorsal Midline Signaling in the Generation of Cajal-Retzius Subtypes". Journal of Neuroscience. 27 (41): 11103–11111. doi:10.1523/JNEUROSCI.1066-07.2007. ISSN   0270-6474. PMC   6672859 . PMID   17928452.
  30. 1 2 Shoichet, Sarah A.; Kunde, Stella-Amrei; Viertel, Petra; Schell-Apacik, Can; von Voss, Hubertus; Tommerup, Niels; Ropers, Hans-Hilger; Kalscheuer, Vera M. (2005-10-01). "Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly". Human Genetics. 117 (6): 536–544. doi:10.1007/s00439-005-1310-3. ISSN   1432-1203. PMID   16133170.
  31. ↑ Cargnin, Francesca; Kwon, Ji-Sun; Katzman, Sol; Chen, Bin; Lee, Jae W.; Lee, Soo-Kyung (2018-12-05). "FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections". Neuron. 100 (5): 1083–1096.e5. doi:10.1016/j.neuron.2018.10.016. ISSN   0896-6273. PMC   6428593 . PMID   30392794.
  32. ↑ Cargnin, Francesca; Kwon, Ji-Sun; Katzman, Sol; Chen, Bin; Lee, Jae W.; Lee, Soo-Kyung (2018-12-05). "FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections". Neuron. 100 (5): 1083–1096.e5. doi:10.1016/j.neuron.2018.10.016. ISSN   0896-6273. PMC   6428593 . PMID   30392794.
  33. 1 2 Shen, Lijian; Nam, Hyung-Song; Song, Ping; Moore, Holly; Anderson, Stewart A. (2006). "FoxG1 haploinsufficiency results in impaired neurogenesis in the postnatal hippocampus and contextual memory deficits". Hippocampus. 16 (10): 875–890. doi:10.1002/hipo.20218. ISSN   1098-1063. PMID   16941454.
  34. ↑ Chiola, Simone; Do, Mihn Duc; Centrone, Lucy; Mallamaci, Antonello (2019-03-01). "Foxg1 Overexpression in Neocortical Pyramids Stimulates Dendrite Elongation Via Hes1 and pCreb1 Upregulation". Cerebral Cortex. 29 (3): 1006–1019. doi:10.1093/cercor/bhy007. ISSN   1047-3211. PMID   29385539.
  35. ↑ Yu, Baocong; Liu, Junhua; Su, Mingzhao; Wang, Chunlian; Chen, Huanxin; Zhao, Chunjie (2019-06-28). "Disruption of Foxg1 impairs neural plasticity leading to social and cognitive behavioral defects". Molecular Brain. 12 (1): 63. doi: 10.1186/s13041-019-0484-x . ISSN   1756-6606. PMC   6599246 . PMID   31253171.
  36. 1 2 3 Brockmann, Knut; Staudt, Martin (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "FOXG1 Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID   38843374 , retrieved 2025-04-03
  37. 1 2 Philadelphia, The Children's Hospital of. "FOXG1 syndrome | Children's Hospital of Philadelphia". www.chop.edu. Retrieved 2025-04-03.
  38. ↑ "UpToDate". www.uptodate.com. Retrieved 2025-04-03.
  39. ↑ Brimble, Elise; Reyes, Kathryn G.; Kuhathaas, Kopika; Devinsky, Orrin; Ruzhnikov, Maura R. Z.; Ortiz-Gonzalez, Xilma R.; Scheffer, Ingrid; Bahi-Buisson, Nadia; Olson, Heather; the FOXG1 Research Foundation (2023-06-12). "Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry". Orphanet Journal of Rare Diseases. 18 (1): 149. doi: 10.1186/s13023-023-02745-y . ISSN   1750-1172. PMC   10262363 . PMID   37308910.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  40. ↑ Cellini, Elena; Vignoli, Aglaia; Pisano, Tiziana; Falchi, Melania; Molinaro, Anna; Accorsi, Patrizia; Bontacchio, Alessia; Pinelli, Lorenzo; Giordano, Lucio; Guerrini, Renzo; On Behalf of the FOXG1 Syndrome Study Group (2016). "The hyperkinetic movement disorder of 1-related epileptic–dyskinetic encephalopathy". Developmental Medicine & Child Neurology. 58 (1): 93–97. doi:10.1111/dmcn.12894. hdl: 2434/334153 . ISSN   1469-8749. PMID   26344814 – via Wiley Online Library.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  41. ↑ "Physical Therapy (Physiotherapy)". Cleveland clinic.
  42. ↑ Jeon, Shin; Park, Jaein; Likhite, Shibi; Moon, Ji Hwan; Shin, Dongjun; Li, Liwen; Meyer, Kathrin C.; Lee, Jae W.; Lee, Soo-Kyung (2024-09-12). "The postnatal injection of AAV9-FOXG1 rescues corpus callosum agenesis and other brain deficits in the mouse model of FOXG1 syndrome". Molecular Therapy - Methods & Clinical Development. 32 (3): 101275. doi:10.1016/j.omtm.2024.101275. ISSN   2329-0501. PMC   11253142 . PMID   39022742.
  43. ↑ Mitter, Diana; Pringsheim, Milka; Kaulisch, Marc; Plümacher, Kim Sarah; Schröder, Simone; Warthemann, Rita; Jamra, Rami Abou; Baethmann, Martina; Bast, Thomas; Büttel, Hans-Martin; Cohen, Julie S.; Conover, Elizabeth; Courage, Carolina; Eger, Angelika; Fatemi, Ali (2018-01-01). "FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants". Genetics in Medicine. 20 (1): 98–108. doi:10.1038/gim.2017.75. ISSN   1098-3600. PMID   28661489.
  44. ↑ Kortüm, Fanny; Das, Soma; Flindt, Max; Morris-Rosendahl, Deborah J.; Stefanova, Irina; Goldstein, Amy; Horn, Denise; Klopocki, Eva; Kluger, Gerhard; Martin, Peter; Rauch, Anita; Roumer, Agathe; Saitta, Sulagna; Walsh, Laurence E.; Wieczorek, Dagmar (2011-06-01). "The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis". Journal of Medical Genetics. 48 (6): 396–406. doi:10.1136/jmg.2010.087528. ISSN   0022-2593. PMC   5522617 . PMID   21441262.
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