通过全外显子组测序鉴定2岁Joubert综合征男孩PIBF1的两种新的致病变异。

4区 医学 Q4 Medicine BMC Medical Genetics Pub Date : 2020-10-01 DOI:10.1186/s12881-020-01130-x
Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma
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引用次数: 7

摘要

背景:Joubert综合征(OMIM 213300)是一种具有基因异质性的常染色体隐性遗传病。通过测序或其他技术已经确定了Joubert综合征亚型的致病基因及其变异。病例介绍:一名两岁男童因整体发育迟缓及中脑磨牙征被诊断为Joubert综合征。采用全外显子组测序检测该个体的致病基因变异,并通过Sanger测序验证候选致病变异。我们在Joubert综合征个体中发现了PIBF1的两个致病变异(NM_006346.2: c.1147delC和c.1054A > G),符合常染色体隐性遗传模式。结论:在本研究中,我们利用全外显子组测序在Joubert综合征个体中发现了两个新的PIBF1致病变异,从而扩大了Joubert综合征PIBF1致病变异谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.

Background: Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes.

Case presentation: A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants in this individual, and the candidate pathogenic variants were verified by Sanger sequencing. We identified two pathogenic variants (NM_006346.2: c.1147delC and c.1054A > G) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance.

Conclusion: In this study, we identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the PIBF1 pathogenic variant spectrum of Joubert syndrome.

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来源期刊
BMC Medical Genetics
BMC Medical Genetics 医学-遗传学
自引率
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审稿时长
12 months
期刊介绍: BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease. Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.
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