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Normal early development in siblings with novel compound heterozygous variants in ASPM
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Normal early development in siblings with novel compound heterozygous variants in ASPM
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Journal Article
Normal early development in siblings with novel compound heterozygous variants in ASPM
2020
Overview
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.
Publisher
Springer Nature B.V
Subject
