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由……中的新型复合杂合突变引起的原发性小头畸形。 （原文此处不完整）

Primary microcephaly caused by novel compound heterozygous mutations in .

作者信息

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

机构信息

Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.

Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

出版信息

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

DOI:10.1038/hgv.2018.15
PMID:29644084
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5885039/
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 () gene, which confirmed the MCPH5 diagnosis. A novel NM_018136.4: c.9742_9745del (p.Lys3248Serfs*13) deletion mutation was identified.

摘要

常染色体隐性原发性小头畸形（小头畸形原发性遗传性，MCPH）是一种遗传异质性罕见发育障碍，其特征为产前开始出现脑生长异常，导致不同严重程度的智力残疾。我们报告一名5岁男性，他患有严重形式的原发性小头畸形。靶向基因panel测序揭示了（）基因的复合杂合截短突变，这证实了MCPH5的诊断。鉴定出一种新的NM_018136.4:c.9742_9745del（p.Lys3248Serfs*13）缺失突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc85/5885039/9e42ec7a9121/hgv201815-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc85/5885039/9e42ec7a9121/hgv201815-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dc85/5885039/9e42ec7a9121/hgv201815-f1.jpg

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