一种新的EFTUD2同义变体破坏了正常的剪接，导致小头畸形的下颌面骨缺损:病例报告。

4区医学 Q4 Medicine BMC Medical Genetics Pub Date : 2020-09-17 DOI:10.1186/s12881-020-01121-y

Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii

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引用次数: 5

摘要

背景:颌面部发育不良伴小头畸形(MFDM)是一种罕见的常染色体显性遗传病，其特征是智力和生长发育迟缓，以及严重的小头畸形，由EFTUD2基因错义和剪接位点变异或微缺失引起。病例介绍:在这里，我们调查一个年轻的女孩与症状的MFDM和核型正常。对该家族进行了全外显子组测序，以确定导致这种表型的遗传改变。我们在EFTUD2基因中发现了一个从头开始的同义变体。我们证明了这个同义变体破坏了9号内含子的供体剪接位点，导致9号外显子的跳跃和一个移码导致过早终止密码子。结论:我们提出了第一例由同义变异破坏供体剪接位点引起的MFDM，导致外显子跳变。

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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A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report.

Background: Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or microdeletions in the EFTUD2 gene.

Case presentation: Here, we investigate the case of a young girl with symptoms of MFDM and a normal karyotype. Whole-exome sequencing of the family was performed to identify genetic alterations responsible for this phenotype. We identified a de novo synonymous variant in the EFTUD2 gene. We demonstrated that this synonymous variant disrupts the donor splice-site in intron 9 resulting in the skipping of exon 9 and a frameshift that leads to a premature stop codon.

Conclusions: We present the first case of MFDM caused by a synonymous variant disrupting the donor splice site, leading to exon skipping.

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来源期刊

BMC Medical Genetics 医学-遗传学

自引率

0.00%

发文量

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.