AHDC1

AHDC1
Identifiers
Aliases	AHDC1 , MRD25, AT-hook DNA binding motif containing 1, XIGIS
External IDs	OMIM: 615790; MGI: 2444218; HomoloGene: 17144; GeneCards: AHDC1; OMA:AHDC1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.11-p35.3 Start 27,534,035 bp [1] End 27,604,431 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 D2.3 Start 132,738,571 bp [2] End 132,805,421 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in paraflocculus of cerebellum Brodmann area 10 frontal pole sural nerve middle frontal gyrus gastric mucosa popliteal artery tibial arteries muscle of thigh right hemisphere of cerebellum Top expressed in zygote secondary oocyte primary visual cortex spermatocyte neural layer of retina superior frontal gyrus yolk sac epiblast primary oocyte seminiferous tubule More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 27245 230793 Ensembl ENSG00000126705 ENSMUSG00000037692 UniProt Q5TGY3 Q6PAL7 RefSeq (mRNA) NM_001029882 NM_001371928 NM_146155 RefSeq (protein) NP_001025053 NP_001358857 NP_666267 NP_001391059 NP_001391060 NP_001391061 NP_001391062 Location (UCSC) Chr 1: 27.53 – 27.6 Mb Chr 4: 132.74 – 132.81 Mb PubMed search [3] [4]
Wikidata
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Transcription factor Gibbin is a protein that in humans is encoded by the AHDC1 ( AT-hook DNA binding motif containing 1) gene. ^[5] Mutation in the gene cause Xia-Gibbs Syndrome, ^{[6] [7]} whose symptoms include developmental delay, global hypotonia, obstructive sleep apnoea and seizures.

Clinical significance

In 2014, a human genetic disorder (Xia-Gibbs Syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing. ^[8] Four patients were identified in the paper which recorded the initial discovery and their clinical features were reported, including global developmental delay, hypotonia, obstructive sleep apnea, intellectual disability and seizures. The publication of the paper and discovery of the new condition was reported in the media including in Science Daily and in Baylor College of Medicine News. ^{[9] [10] [11]} Subsequent research has identified and reported the clinical features of an additional seven patients and there are now known to be twenty confirmed cases. ^[12]

References

1. GRCh38: Ensembl release 89: ENSG00000126705 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000037692 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "OMIM Entry - * 615790 – AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1". www.omim.org. Retrieved 2015-10-18.
6. "Xia-Gibbs Syndrome – Ontology Report – Rat Genome Database". rgd.mcw.edu. Retrieved 2015-10-18.
7. "Xia-Gibbs Syndrome disease: Malacards – Research Articles, Symptoms, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2015-10-18.
8. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, et al. (May 2014). "De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea". American Journal of Human Genetics. 94 (5): 784–789. doi:10.1016/j.ajhg.2014.04.006. PMC   4067559 . PMID   24791903.
9. "New syndrome caused by mutations in AHDC1". ScienceDaily. April 25, 2017. Retrieved April 25, 2017.
10. "New syndrome caused by mutations in AHDC1" . Retrieved 25 April 2017.
11. "Peek into AHDC1 Mutation Leads to Discovery of New Syndrome by BCM Researchers". BioNews Texas. Archived from the original on 2015-09-10. Retrieved 2015-10-18.
12. Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, et al. (October 2015). "De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay". Cold Spring Harbor Molecular Case Studies. 1 (1): a000562. doi:10.1101/mcs.a000562. PMC   4850891 . PMID   27148574.