A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL Cold Spring Harbor Molecular Case Studies Pub Date : 2022-08-05 DOI:10.1101/mcs.a006225

Ayat Kadhi, Lamiaa Hamie, Christel Tamer, Georges Nemer, Mazen Kurban

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Abstract

Background: Heredity Hypotrichosis Simplex (HHS) is a rare non-syndromic disease form of Hypotrichosis Simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the treatments remain challenging despite recent advancement. In this report, we describe a 19-year old female affected with HHS alongside most of her family members.

Methods: Whole Exome Sequencing (WES) was performed for some of the family members to unravel the culprit gene involved in HHS phenotype and ascertain the dermatological examination that was done to classify the phenotypes of the disease.

Results: A novel pathogenic variant in the CDH3 gene (p.Ser223GlyfsTer4) was identified as a plausible disease-causing variant for HHS.

Conclusion: This is the first report to associate CDH3 variants with a HHS phenotype without macular degeneration using WES. WES is an important tool for genotype-phenotype correlation, precision in diagnosis, and in-depth understanding of the disease mechanisms, leading to possible novel therapeutic targets treatment and better patient's outcomes.

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通过全基因组测序（WES）检测到一种新的致病性 CDH3 变异，它是遗传性单纯性多毛症的基础--一个病例报告。

背景：遗传性单纯性毛囊角化症（HHS）是单纯性毛囊角化症（HS）的一种罕见的非综合征疾病形式，其特征是进行性毛囊（HF）变小。它通常为常染色体显性遗传。尽管近年来取得了一些进展，但 HHS 的鉴别诊断和治疗仍然具有挑战性。在本报告中，我们描述了一名患有 HHS 的 19 岁女性及其大部分家庭成员的情况：方法：对部分家庭成员进行了全外显子组测序（WES），以揭示导致 HHS 表型的罪魁祸首基因，并确定皮肤病检查结果，以便对疾病表型进行分类：结果：CDH3基因中的一个新型致病变异（p.Ser223GlyfsTer4）被确定为HHS的一个可信致病变异：这是第一份利用 WES 将 CDH3 变异与无黄斑变性的 HHS 表型相关联的报告。WES 是基因型与表型相关性、精确诊断和深入了解疾病机制的重要工具，可帮助找到新的治疗靶点，改善患者的预后。

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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.