Rapid genome sequencing identifies novel variants in complement factor I.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2022-12-28 Print Date: 2022-12-01 DOI:10.1101/mcs.a006239

Katherine M Rodriguez, Jordan Vaught, Michelle Dilley, Kataryzna Ellsworth, Alaina Heinen, Edsel M Abud, Yuzhou Zhang, Richard J H Smith, Robert Sheets, Bob Geng, Hal M Hoffman, H Michael Worthen, David Dimmock, Nicole G Coufal

引用次数: 0

Abstract

Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We report a previously healthy adolescent male who presented with respiratory failure secondary to pneumococcal pneumonia and severe systemic inflammatory response. Rapid genome sequencing (rGS) identified compound heterozygous variants in CFI in the proband, with a novel maternally inherited likely pathogenic variant, a single nucleotide deletion resulting in premature stop (c.1646del; p.Asn549ThrfsTer25) and a paternally inherited novel likely pathogenic deletion (Chr 4:110685580-110692197del).

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快速基因组测序鉴定补体因子I的新变体。

补体因子I缺乏症（CFID；OMIM#610984）是一种罕见的免疫缺陷，由丝氨酸蛋白酶补体因子I（CFI）缺乏引起。CFID的特点是易患严重肺炎球菌感染，通常在婴儿期。我们报告了一名先前健康的青少年男性，他表现出继发于肺炎球菌肺炎的呼吸衰竭和严重的全身炎症反应。快速基因组测序（rGS）在先证者的CFI中发现了复合杂合变体，包括一种新的母体遗传的可能致病变体、一种导致过早停止的单核苷酸缺失（c.1646del；p.Asn549ThrfsTer25）和一种父系遗传的新的可能致病缺失（Chr 4:110685580-110692197del）。

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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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.