Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2022-03-24 Print Date: 2022-02-01 DOI:10.1101/mcs.a006103

Kamal Hassan, Amal Robay, Aljazi Al-Maraghi, Nuha Nimeri, Asmaa Basheer Azzam, Alya Al Shakaki, Eman Hamid, Ronald G Crystal, Khalid A Fakhro

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Abstract

Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two families share a novel nonsense variant (Glu1589*) in the MYO5B gene, a type Vb myosin motor protein in which rare damaging mutations were previously described to cause MVID. This founder mutation was very rare in public databases and is likely specific to patients of Syrian ancestry. We present a detailed account of both patients' clinical histories to fully characterize the effect of this variant and expand the genotype-phenotype databases for MVID patients from the Middle East.

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叙利亚血统微绒毛包涵病的新型MYO5B突变。

微绒毛包涵性疾病(Microvillus inclusion disease, MVID)是一种罕见的常染色体隐性遗传病，其特征是肠细胞表面缺乏微绒毛，导致严重的、危及生命的腹泻，可能导致出生后一年内死亡。我们确定了两个不相关的家庭，每个家庭都有一个孩子从出生起就表现出严重的MVID。利用三人全外显子组测序，我们观察到这两个家族在MYO5B基因上有一个新的无义变体(Glu1589*)，这是一种Vb型肌球蛋白运动蛋白，以前曾描述过这种罕见的破坏性突变会导致MVID。这种始祖突变在公共数据库中非常罕见，可能是叙利亚血统的患者特有的。我们对两名患者的临床病史进行了详细的描述，以充分表征这种变异的影响，并扩展了中东MVID患者的基因型-表型数据库。

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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Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-

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3.20

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0.00%

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期刊介绍： Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.