与神经发育迟缓和脑瘫表现相关的新发TRPM3错义变体。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL

Cold Spring Harbor Molecular Case Studies Pub Date : 2024-01-10 Print Date: 2023-12-01 DOI:10.1101/mcs.a006293

Jagadish Chandrabose Sundaramurthi, Anita M Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael A Gargano, Anxhela Gjyshi Gustafson, Ellen M Raney, Mallory Shingle, Jon R Davids, Peter N Robinson

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引用次数: 0

摘要

我们使用Exomester对全基因组测序数据进行表型驱动的优先分析，在一名发育迟缓和脑瘫表现的患者中发现了一个新的杂合TRPM3错义变体p.（Asn1126Asp）。该变体定位于TRPM3蛋白的功能重要的离子转运结构域，并预测会破坏蛋白结构的稳定。我们的报告将TRPM3添加到可能与脑瘫相关的孟德尔疾病相关基因列表中，并证实了变体p的致病性。（Asn1126Asp）。

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De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.

We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 (TRPM3) missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure. Our report adds TRPM3 to the list of Mendelian disease-associated genes that can be associated with CP and provides further evidence for the pathogenicity of the variant p.(Asn1126Asp).

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来源期刊

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

CiteScore

3.20

自引率

0.00%

发文量

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.