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Article

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.

European journal of medical genetics - 1 Apr 2019

Aarabi Mahmoud, Kessler Elena, Madan-Khetarpal Suneeta, Surti Urvashi, Bellissimo Daniel, Rajkovic Aleksandar, Yatsenko Svetlana A

Abstract excerpt

Proper function of GABAergic synapses depends upon the postsynaptic compartment anchoring of neurotransmitter receptors to the membrane by gephyrin and collybistin (Cb). In humans, Cb is encoded by ARHGEF9 on Xq11.1. ARHGEF9 alterations, some inherited from unaffected mothers, have been reported in males with autism, seizures and severe neurodevelopmental abnormalities. In females, a spectrum of mild to moderate...

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Source

Identifiers

PMID: 30048823
DOI: 10.1016/j.ejmg.2018.07.021

Genes

ARHGEF9

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