Primary microcephaly caused by novel compound heterozygous mutations in ASPM.
Primary microcephaly caused by novel compound heterozygous mutations in ASPM.
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DOI：
10.1038/hgv.2018.15
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发表时间：
2018
影响因子：
1.5
通讯作者：
Imoto I
中科院分区：
文献类型：
--
作者：
Okamoto N;Kohmoto T;Naruto T;Masuda K;Imoto I
常染色体隐性遗传性原发性小头畸形（microcephaly primary hereditary，MCPH）是一种遗传异质性罕见发育障碍，其特征在于产前发作的异常脑生长，其导致不同严重程度的智力残疾。我们报告一个5岁的男性谁提出了一个严重的形式原发性小头畸形。靶向组测序显示异常纺锤体样小头相关（ASPM）基因的复合杂合截短突变，证实了MCPH5诊断。发现了一个新的NM_018136.4：c.9742_9745del（p.Lys3248Serfs*13）缺失突变。
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.