AHDC1 explained

AHDC1[1] is a gene, changes in which are found through clinical studies to cause an array of symptoms in affected children known collectively as Xia-Gibbs Syndrome,[2] [3] including global 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.[4] 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.[5] [6] [7] Subsequent research has identified and reported the clinical features of an additional seven patients and there are now known to be twenty confirmed cases.[8]

Notes and References

  1. Web site: OMIM Entry - * 615790 – AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1. www.omim.org. 2015-10-18.
  2. Web site: Xia-Gibbs Syndrome – Ontology Report – Rat Genome Database. rgd.mcw.edu. 2015-10-18.
  3. Web site: Xia-Gibbs Syndrome disease: Malacards – Research Articles, Symptoms, Drugs, Genes, Clinical Trials. www.malacards.org. 2015-10-18.
  4. Xia. Fan. Bainbridge. Matthew N.. Tan. Tiong Yan. Wangler. Michael F.. Scheuerle. Angela E.. Zackai. Elaine H.. Elaine Zackai. Harr. Margaret H.. Sutton. V. Reid. Nalam. Roopa L.. Zhu. Wenmaio. Nash. Margot. Ryan. Monique M.. Yaplito-Lee. Joy. Hunter. Jill V.. Deardoff. Matthew A.. Penney. Samantha J.. Beaudet. Arthur L.. Plon. Sharon E.. Boerwinkle. Eric A.. Lupski. James R.. Eng. Christine M.. Muzny. Donna M.. Yang. Yaping. Gibbs. Richard A.. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea. The American Journal of Human Genetics. 1 May 2014. 94. 5. 784–789. 10.1016/j.ajhg.2014.04.006. 24791903. 4067559.
  5. Web site: New syndrome caused by mutations in AHDC1 . ScienceDaily . April 25, 2017 . . April 25, 2017.
  6. Web site: New syndrome caused by mutations in AHDC1. 25 April 2017.
  7. Web site: Peek into AHDC1 Mutation Leads to Discovery of New Syndrome by BCM Researchers. BioNews Texas. 2015-10-18. en-US. 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/. 2015-09-10. dead.
  8. Yang. Hui. Douglas. Ganka. Monaghan. Kristin G.. Retterer. Kyle. Cho. Meghan T.. Escobar. Luis F.. Tucker. Megan E.. Stoler. Joan. Rodan. Lance H.. Stein. Diane. Marks. Warren. Enns. Gregory M.. Platt. Julia. Cox. Rachel. Wheeler. Patricia G.. Crain. Carrie. Calhoun. Amy. Tryon. Rebecca. Richard. Gabriele. Vitazka. Patrik. Chung. Wendy K.. 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. October 2015. 1. 1. a000562. 10.1101/mcs.a000562. 27148574. 4850891.

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