User:RudyOpdenCamp

Xia-Gibbs Syndrome,[1][2] also known as AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome[3][4] is a newly discovered genetic disorder caused by a heterozygous mutation in the AHDC1 gene[5] (AT hook, DNA binding motif, containing 1) on chromosome 1p36.

Note: 32 Cases worldwide to this date (January 11, 2017) have been diagnosed. Parents of these children face many issues related to getting assistance for these children through DHS because of the lack of information supplied to Health Organizations about this Syndrome and as they age the Health Organizations where people have to apply for assistance for these children need to be updated on this Syndrome. Please bring this to the attention of the Medical Community and your local Government and DHS Offices so that more families of these children can be helped financially. The financial burden rest on the parents and they need help. Many issues related to getting assistance for these children is tossed out because it's not in the list of issues they are use to seeing. This needs to be addressed by the Medical Community and XIA GIBBS needs to be added to their list of health issues.

Signs and symptoms[edit source]

Xia-Gibbs Syndrome is associated with symptoms including global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cyst, delayed myelination, micrognathia and mild dysmorphic features.

History[edit source]

In 2014 a human genetic disorder (Xia-Gibbs Syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing.[6] 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.[7][8][9] Subsequent research has identified and reported the clinical features of an additional seven patients and there are now known to be twenty confirmed cases.[10]

References[edit source]

1.Jump up ^ "Xia-Gibbs Syndrome - Ontology Report - Rat Genome Database". rgd.mcw.edu. Retrieved 2015-10-18. 2.Jump up ^ "Xia-Gibbs Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2015-10-18. 3.Jump up ^ "Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2015-10-18. 4.Jump up ^ "Orphanet: AHDC1 related intellectual disability obstructive sleep apnea mild dysmorphism syndrome". www.orpha.net. Retrieved 2015-10-18. 5.Jump up ^ "OMIM Entry - * 615790 - AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1". www.omim.org. Retrieved 2015-10-18. 6.Jump up ^ 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. 7.Jump up ^ http://www.sciencedaily.com/releases/2014/05/140501123455.htm. Missing or empty |title= (help) 8.Jump up ^ https://www.bcm.edu/news/molecular-and-human-genetics/new-syndrome-caused-by-ahdc1-mutations. Missing or empty |title= (help) 9.Jump up ^ "Peek into AHDC1 Mutation Leads to Discovery of New Syndrome by BCM Researchers". BioNews Texas. Retrieved 2015-10-18. 10.Jump up ^ 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" (PDF). Cold Spring Harbor Molecular Case Studies. 1 (1). doi:10.1101/mcs.a000562.