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Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

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.

SUBMITTER: Okamoto N

PROVIDER: S-EPMC5885039 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

Okamoto Nobuhiko N Kohmoto Tomohiro T Naruto Takuya T Masuda Kiyoshi K Imoto Issei I

Human genome variation 20180405

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< ...[more]

PMID: 29644084

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