AHDC1
{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox gene}}
Transcription factor Gibbin is a protein that in humans is encoded by the AHDC1 ( AT-hook DNA binding motif containing 1) gene.{{cite web|title = OMIM Entry - * 615790 – AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1|url = http://www.omim.org/entry/615790#0001|website = www.omim.org|access-date = 2015-10-18}} Mutation in the gene cause Xia-Gibbs Syndrome,{{cite web|title = Xia-Gibbs Syndrome – Ontology Report – Rat Genome Database|url = http://rgd.mcw.edu/rgdweb/ontology/annot.html?acc_id=RDO:9001055&species=Mouse|website = rgd.mcw.edu|access-date = 2015-10-18}}{{cite web|title = Xia-Gibbs Syndrome disease: Malacards – Research Articles, Symptoms, Drugs, Genes, Clinical Trials|url = http://www.malacards.org/card/xia_gibbs_syndrome|website = www.malacards.org|access-date = 2015-10-18}} 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.{{cite journal | vauthors = Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA | title = De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea | journal = American Journal of Human Genetics | volume = 94 | issue = 5 | pages = 784–789 | date = May 2014 | pmid = 24791903 | pmc = 4067559 | doi = 10.1016/j.ajhg.2014.04.006 | author-link6 = Elaine Zackai }} 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.{{cite web | title=New syndrome caused by mutations in AHDC1 | website=ScienceDaily | date=April 25, 2017 | url=https://www.sciencedaily.com/releases/2014/05/140501123455.htm | ref={{sfnref | ScienceDaily | 2017}} | access-date=April 25, 2017}}{{cite web|url=https://www.bcm.edu/news/molecular-and-human-genetics/new-syndrome-caused-by-ahdc1-mutations|title=New syndrome caused by mutations in AHDC1|access-date=25 April 2017}}{{cite web|title = Peek into AHDC1 Mutation Leads to Discovery of New Syndrome by BCM Researchers|url = http://bionews-tx.com/news/2014/05/06/peek-into-ahdc1-mutation-leads-to-discovery-of-new-syndrome-by-bcm-researchers/|website = BioNews Texas|access-date = 2015-10-18|language = en-US|archive-url = https://web.archive.org/web/20150910043133/http://bionews-tx.com/news/2014/05/06/peek-into-ahdc1-mutation-leads-to-discovery-of-new-syndrome-by-bcm-researchers/|archive-date = 2015-09-10|url-status = dead}} Subsequent research has identified and reported the clinical features of an additional seven patients and there are now known to be twenty confirmed cases.{{cite journal | vauthors = Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, Tucker ME, Stoler J, Rodan LH, Stein D, Marks W, Enns GM, Platt J, Cox R, Wheeler PG, Crain C, Calhoun A, Tryon R, Richard G, Vitazka P, Chung WK | title = 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 | journal = Cold Spring Harbor Molecular Case Studies | volume = 1 | issue = 1 | pages = a000562 | date = October 2015 | pmid = 27148574 | pmc = 4850891 | doi = 10.1101/mcs.a000562 }}
References
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