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

Clin Genet. 2021 Dec;100(6):748-751. doi: 10.1111/cge.14053. Epub 2021 Aug 29.

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.

Keywords: GOLGA2; Golgi; congenital; microcephaly; myopathy; neurological.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Autoantigens / genetics*
  • Consanguinity
  • Exome Sequencing
  • Female
  • Genes, Recessive
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Infant
  • Loss of Function Mutation*
  • Membrane Proteins / genetics*
  • Nervous System Diseases / diagnosis*
  • Nervous System Diseases / genetics*
  • Pedigree
  • Phenotype*

Substances

  • Autoantigens
  • Golgin subfamily A member 2
  • Membrane Proteins