Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family. Issue 6 (29th August 2021)

• Record Type: Journal Article
• Authors: Kotecha, Udhaya; Mistri, Mehul; Shah, Nidhi; Shah, Parth S.; Gupta, Vandana A.
• Is Part Of: Clinical genetics. Volume 100:Issue 6(2021)
• Page Start: 748
• Page End: 751
• Publication Date: 2021-08-29
• Subjects: congenital -- GOLGA2 -- Golgi -- microcephaly -- myopathy -- neurological; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.14053
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract: 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. Abstract :