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全外显子组测序鉴定出ASPM基因中的一种新的纯合移码突变，该突变导致原发性常染色体隐性小头畸形5型。

Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.

作者信息

Bhargav Desaraju Suresh, Sreedevi N, Swapna N, Vivek Soumya, Kovvali Srinivas

机构信息

Unit for Human Genetics, All India Institute of Speech and Hearing, Manasagangothri, India.

Department of Clinical Services, All India Institute of Speech and Hearing, Manasagangothri, India.

出版信息

F1000Res. 2017 Dec 21;6:2163. doi: 10.12688/f1000research.12102.1. eCollection 2017.

DOI:10.12688/f1000research.12102.1
PMID:29375817
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5770997/
Abstract

Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using massive parallel sequencing, we identified a novel frame shift insertion in the abnormal spindle-like microcephaly-associated protein gene in a client with true autosomal recessive primary microcephaly.  Exome sequencing in the present case helped in identifying the true cause behind the disease, which helps in the premarital counselling for the sibling to avoid future recurrence of the disorder in the family.

摘要

小头畸形是一种基因异质性疾病，是儿科神经病理学中常见的显著病症之一，可单独存在或与其他合并症相关。真正的小头畸形涉及多个基因，随着测序技术的最新进展，这个名单还在不断增加。通过大规模平行测序，我们在一名患有真正常染色体隐性原发性小头畸形的患者中，在异常纺锤样小头畸形相关蛋白基因中发现了一个新的移码插入。本病例中的外显子组测序有助于确定疾病背后的真正原因，这有助于为其兄弟姐妹进行婚前咨询，以避免该疾病在家族中再次发生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b19/5770997/e6629253a86f/f1000research-6-13096-g0000.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b19/5770997/e6629253a86f/f1000research-6-13096-g0000.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b19/5770997/e6629253a86f/f1000research-6-13096-g0000.jpg

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CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.CIT，一个参与神经发生胞质分裂的基因，在人类原发性小头畸形中发生突变。
Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
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Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
遗传原发性小头畸形：当中心体功能障碍决定大脑和身体大小时。
Cells. 2023 Jul 7;12(13):1807. doi: 10.3390/cells12131807.
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Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes , , and in Consanguineous Pakistani Families.在巴基斯坦血缘家族中鉴定原发性小头畸形相关的三个基因 、 和 中的致病突变。
Biomed Res Int. 2022 Mar 3;2022:3769948. doi: 10.1155/2022/3769948. eCollection 2022.
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