Primary microcephaly caused by novel compound heterozygous mutations in ASPM

Nobuhiko Okamoto; Tomohiro Kohmoto; Takuya Naruto; Kiyoshi Masuda; Issei Imoto

doi:10.1038/hgv.2018.15

Primary microcephaly caused by novel compound heterozygous mutations in ASPM

Hum Genome Var. 2018 Apr 5:5:18015. doi: 10.1038/hgv.2018.15. eCollection 2018.

Authors

Nobuhiko Okamoto¹, Tomohiro Kohmoto², Takuya Naruto², Kiyoshi Masuda², Issei Imoto²

Affiliations

¹ Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
² Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

Abstract

Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare developmental disorder that is characterized by prenatal onset of abnormal brain growth, which leads to intellectual disability of variable severity. We report a 5-year-old male who presented with a severe form of primary microcephaly. Targeted panel sequencing revealed compound heterozygous truncating mutations of the abnormal spindle-like microcephaly-associated (ASPM) gene, which confirmed the MCPH5 diagnosis. A novel NM_018136.4: c.9742_9745del (p.Lys3248Serfs*13) deletion mutation was identified.