Xia-Gibbs syndrome,[3][4] is genetic disorder caused by a heterozygous mutation in the AHDC1 gene[5] (AT hook, DNA binding motif, containing 1) on chromosome 1p36 .
Around 300 cases worldwide to this date (September 23, 2022) have been diagnosed.
Signs and symptoms
Xia-Gibbs syndrome is associated with symptoms including global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cyst, delayed myelination, thinned corpus callosum, cutis aplasia, cortical visual impairment, micrognathia and mild dysmorphic features.
Diagnosis
Diagnosis requires diagnosis by whole-exome sequencing done by a genetic specialist.
History
In 2014, a human genetic disorder (Xia-Gibbs syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing by Xia, et al.[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
- ^ "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.
- ^ "Orphanet: AHDC1 related intellectual disability obstructive sleep apnea mild dysmorphism syndrome". www.orpha.net. Retrieved 2015-10-18.
- ^ "Xia-Gibbs Syndrome - Ontology Report - Rat Genome Database". rgd.mcw.edu. Retrieved 2015-10-18.
- ^ "Xia-Gibbs Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials". www.malacards.org. Retrieved 2015-10-18.
- ^ "OMIM Entry - * 615790 - AT-Hook DNA-Binding Motif-Containing Protein 1; AHDC1". www.omim.org. Retrieved 2015-10-18.
- ^ 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, Christine 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.
- ^ "New syndrome caused by mutations in AHDC1". Science Daily. Retrieved 2015-10-18.
- ^ Picton, Glenna. "New syndrome caused by mutations in AHDC1". Baylor College of Medicine. Retrieved 2015-10-18.
- ^ "Peek into AHDC1 Mutation Leads to Discovery of New Syndrome by BCM Researchers". BioNews Texas. Retrieved 2015-10-18.
- ^ 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 page was last edited on 5 February 2024, at 00:47