Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family.

Udhaya Kotecha, Mehul Mistri, Nidhi Shah, Parth S Shah, Vandana A Gupta

Clinical genetics 2021 Dec

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GOGLA2/GM130 is a Golgin protein involved in vesicle tethering, cell proliferation and autophagy. Recessive loss of function mutation in GOLGA2 has been previously reported in a single family with muscular dystrophy and microcephaly. Here we describe a second consanguineous family with the bi-allelic loss of function mutations in GOLGA2. The patient exhibits microcephaly, seizures, and myopathy similar to the previously reported patient with GOLGA2 mutation. This report supports the critical developmental requirement of GOLGA2 and emphasizes a similar and severe clinical presentation with loss of function mutations in affected patients. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Citation

Udhaya Kotecha, Mehul Mistri, Nidhi Shah, Parth S Shah, Vandana A Gupta. Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family. Clinical genetics. 2021 Dec;100(6):748-751