Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.

IF 2.3 3区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Tehseen Ullah Khan Afridi, Ambrin Fatima, Humayoon Shafique Satti, Zaineb Akram, Imran Khan Yousafzai, Wajahat Bin Naeem, Nasreen Fatima, Asmat Ali, Zafar Iqbal, Ayaz Khan, Muhammad Shahzad, Chunyu Liu, Mathias Toft, Feng Zhang, Muhammad Tariq, Erica E Davis, Tahir N Khan
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引用次数: 0

Abstract

Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families. Using exome sequencing (ES) as a diagnostic approach, we identified disease-causing variants in established NDD-associated genes in all families, including one hitherto unreported variant in RELN and three recurrent variants in VPS13B, DEGS1, and SPG11. Overall, our study highlights the potential of ES as a tool for clinical diagnosis.

Abstract Image

四个神经发育障碍家族的外显子组测序:基因型与表型的相关性以及 VPS13B 和 RELN 中新型致病变异的鉴定。
神经发育障碍(NDDs)是一组临床和遗传异质性的早发性儿科疾病,影响中枢或外周神经系统的结构和/或功能。由于遗传基础和临床变异的多样性,对 NDDs 进行精确的分子诊断可能具有挑战性。在本研究中,我们调查了四个无亲属关系的巴基斯坦家庭中 NDDs 的潜在遗传原因。利用外显子组测序(ES)作为诊断方法,我们在所有家族中发现了已确定的 NDD 相关基因中的致病变异,包括一个迄今未报道的 RELN 变异以及 VPS13B、DEGS1 和 SPG11 中的三个复发性变异。总之,我们的研究凸显了 ES 作为临床诊断工具的潜力。
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来源期刊
Molecular Genetics and Genomics
Molecular Genetics and Genomics 生物-生化与分子生物学
CiteScore
5.10
自引率
3.20%
发文量
134
审稿时长
1 months
期刊介绍: Molecular Genetics and Genomics (MGG) publishes peer-reviewed articles covering all areas of genetics and genomics. Any approach to the study of genes and genomes is considered, be it experimental, theoretical or synthetic. MGG publishes research on all organisms that is of broad interest to those working in the fields of genetics, genomics, biology, medicine and biotechnology. The journal investigates a broad range of topics, including these from recent issues: mechanisms for extending longevity in a variety of organisms; screening of yeast metal homeostasis genes involved in mitochondrial functions; molecular mapping of cultivar-specific avirulence genes in the rice blast fungus and more.
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