Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-08-01 Epub Date: 2023-03-29 DOI:10.1159/000528980

Jaime Toral López, Luz María González Huerta

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Abstract

Introduction: Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are allelic and caused by mutations in the COMP gene. Other mutations in the genes MMP13, AIFM1, B3GALT6, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2 have also been associated with evidence of dysplasia in the epiphysis, metaphysis, and spine.

Case presentation: We report on the first Mexican patient diagnosed with PSACH. The diagnosis was confirmed by identifying a recurrent heterozygous mutation c.2153G>C (p.Arg718Pro) in the COMP gene using whole-exome sequencing.

Discussion: The anterior spindle-shaped vertebral bodies and severe short stature are not observed in patients carrying p.Arg718Pro, identifying another amino acid site associated with clinical heterogeneity. Reporting new cases with clinical heterogeneity in terms of phenotype plays a crucial role in understanding PSACH and MED pathogenesis. The most important aspect of this presentation is providing a new perspective on a recognized clinical scenario, thus setting the standard for better genetic counseling.

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COMP基因的复发突变（p.Arg718Pro）与假性软骨发育不全的临床异质性。

引言：假性软骨发育不全（PSACH）和多发性骨骺发育不良（MED）是等位基因，由COMP基因突变引起。MMP13、AIFM1、B3GALT6、MATN3、COL9A1、COL9A2、COL9A3和SLC26A2基因的其他突变也与骨骺、干骺端和脊椎发育不良的证据有关。病例介绍：我们报告了第一例被诊断为PSACH的墨西哥患者。通过使用全外显子组测序鉴定COMP基因中的复发性杂合突变c.2153G>c（p.Arg718Pro）来确认诊断。讨论：在携带p.Arg718Pro的患者中未观察到前纺锤形椎体和严重矮小，确定了另一个与临床异质性相关的氨基酸位点。报告表型方面具有临床异质性的新病例对理解PSACH和MED的发病机制起着至关重要的作用。该报告最重要的方面是为公认的临床场景提供了一个新的视角，从而为更好的遗传咨询制定了标准。

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

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.