Normal early development in siblings with novel compound heterozygous variants in ASPM.

ABSTRACT: Autosomal recessive primary microcephaly 5 (MCPH5) is caused by pathogenic variants in ASPM. Using whole-exome sequencing, we diagnosed two siblings with MCPH5. A known pathogenic variant (NM_018136.4: c.9697C > T, p.(Arg3233*)) and a novel pathogenic variant (c.1402_1406del, p.(Asn468Serfs*2)) of ASPM were identified in affected siblings with normal intelligence. Their pathogenic variants were not located in the critical regions of ASPM, but the relationship between the genotypes and their normal intelligence was unclear.

SUBMITTER: Moriwaki T 

PROVIDER: S-EPMC6943122 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature