AHDC1

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]

References

  1. ↑ "OMIM Entry - * 615790 – AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1". www.omim.org. Retrieved 2015-10-18.
  2. ↑ "Xia-Gibbs Syndrome – Ontology Report – Rat Genome Database". rgd.mcw.edu. Retrieved 2015-10-18.
  3. ↑ "Xia-Gibbs Syndrome disease: Malacards – Research Articles, Symptoms, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2015-10-18.
  4. ↑ Xia, Fan; Bainbridge, Matthew N.; Tan, Tiong Yan; Wangler, Michael F.; Scheuerle, Angela E.; Zackai, Elaine H.; 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, Christina M.; Muzny, Donna M.; Yang, Yaping; Gibbs, Richard A. (1 May 2014). "De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea". The American Journal of Human Genetics. 94 (5): 784–789. doi:10.1016/j.ajhg.2014.04.006. PMC 4067559. PMID 24791903.
  5. ↑ "New syndrome caused by mutations in AHDC1". ScienceDaily. April 25, 2017. Retrieved April 25, 2017.
  6. ↑ "New syndrome caused by mutations in AHDC1". Retrieved 25 April 2017.
  7. ↑ "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.
  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. (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.
This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.