Transcription factor Gibbin is a protein that in humans is encoded by the AHDC1 (AT-hook DNA binding motif containing 1) gene. Mutation in the gene cause Xia–Gibbs syndrome, whose symptoms include 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. 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. Subsequent research has identified and reported the clinical features of an additional seven patients and there are now known to be twenty confirmed cases.
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