MBD5单倍不全家族的种系嵌合现象。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2022-12-01 DOI:10.1101/mcs.a006253

Mehak Bhatia, Gianpiero L Cavalleri, Maire White, Norman Delanty, Brian J Sweeney, Daniel J Costello, Marie T Greally, Katherine A Benson

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引用次数: 0

摘要

甲基cpg结合结构域蛋白5 (MBD5)基因的单倍性不足会导致神经发育障碍，包括智力障碍、发育迟缓、语言障碍、癫痫发作、睡眠障碍和行为困难。2q23.1的微缺失是单倍不全的最常见原因，尽管MBD5单倍不全也可能导致这种遗传疾病。我们报道了一个含有MBD5杂合功能缺失变异的家族(NM_018328.5:c.728delC;p.Pro243Hisfs*26)，其中包括三个具有不同表型特征的受影响兄弟姐妹。父母双方表型正常，但父母的深度覆盖测序显示母亲的种系嵌合体。

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Germline mosaicism in a family with MBD5 haploinsufficiency.

Haploinsufficiency of the methyl-CpG-binding domain protein 5 (MBD5) gene causes a neurodevelopmental disorder that includes intellectual disability, developmental delay, speech impairment, seizures, sleep disturbances, and behavioral difficulties. Microdeletion of 2q23.1 is the most common cause of haploinsufficiency, although MBD5 haploinsufficiency may also cause this genetic disorder. We report a family harboring a heterozygous loss-of-function variant in MBD5 (NM_018328.5:c.728delC; p.Pro243Hisfs*26), which includes three affected siblings with varying phenotypic features. Both parents were phenotypically normal but deep coverage sequencing of the parents showed germline mosaicism in the mother.

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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%

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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.