Xia–Gibbs syndrome
Xia-Gibbs Syndrome,[1][2] is a newly discovered genetic disorder caused by a heterozygous mutation in the AHDC1 gene[3] (AT hook, DNA binding motif, containing 1) on chromosome 1p36 .
32 Cases worldwide to this date (January 11, 2017) have been diagnosed.
Signs and symptoms[edit | edit source]
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[edit | edit source]
Diagnosis requires diagnosis by whole-exome sequencing done by a genetic specialist.
History[edit | edit source]
In 2014 a human genetic disorder (Xia-Gibbs Syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing by Fan Xia, Richard A. Gibbs et al.[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[edit | edit source]
- ↑ "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.
{{cite web}}: CS1 maint: url-status (link) - ↑
- ↑ "New syndrome caused by mutations in AHDC1".
- ↑ "New syndrome caused by mutations in AHDC1".
- ↑ "Peek into AHDC1 Mutation Leads to Discovery of New Syndrome by BCM Researchers". BioNews Texas. Retrieved 2015-10-18.
- ↑
- Need help finding a doctor or specialist anywhere in the world? WikiMD's DocFinder can help with millions of doctors!
| This article is a stub. Help WikiMD grow by registering to expand it. |
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
