A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Abstract

A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

“…Rare genetic variants in GTPBP2 have been reported in recent years as a very rare cause of neurodegeneration with brain iron accumulation (NBIA) and/or severe neurodevelopmental disorders in a small group of consanguineous families from Iran, Northern Africa, and the Middle East. 4 , 5 , 6 , 7 However, limited genotype-phenotype correlations are available for this ultra-rare condition, and the underlying disease mechanisms remain largely elusive. In addition, there is no yet established human disease associated with the homologous GTPBP1 .…”