Xia-Gibbs syndrome[3][4] isgenetic disorder caused by a heterozygousmutation in theAHDC1 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.
In 2014, a human genetic disorder (Xia-Gibbs syndrome) caused byde novo mutations inAHDC1 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 inScience Daily and inBaylor 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]
