ACAN基因突变引起的一例身材矮小。

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-04-01 Epub Date: 2022-10-21 DOI:10.1159/000526166

Emine Karatas, Mikail Demir, Firat Ozcelik, Leyla Kara, Esra Akyurek, Ugur Berber, Nihal Hatipoglu, Yusuf Ozkul, Munis Dundar

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引用次数: 0

摘要

引言：结节性病变是一种罕见的与特发性身材矮小相关的疾病。它们是由位于染色体15q26上的ACAN基因的致病性变化引起的。在这项研究中，我们提出了一个由ACAN基因突变引起的身材矮小的病例。病例介绍：一名3岁3个月大的男性患者因身材矮小被转诊给我们。体格检查显示身材矮小、额凸、小头畸形、面中部发育不全、右眼上睑下垂和脚趾宽。当患者6岁3个月大时，他的骨龄与7岁相符。患者接受了临床外显子组测序，在ACAN基因中检测到杂合无义c.1243G>T，p.（Glu415*）致病性变体。在他表型相似的父亲身上也发现了同样的变体。我们的病人是第二例上睑下垂。讨论：在特发性身材矮小患者的鉴别诊断中应考虑ACAN基因突变。下一代测序技术的发展和广泛使用增加了诊断和治疗的可能性。

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A Case of Short Stature Caused by a Mutation in the ACAN Gene.

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the ACAN gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the ACAN gene.

Case presentation: A 3-year-3-month-old male patient was referred to us because of his short stature. Physical examination revealed proportional short stature, frontal bossing, macrocephaly, midface hypoplasia, ptosis in the right eye, and wide toes. When the patient was 6 years and 3 months old, his bone age was compatible with 7 years of age. The patient underwent clinical exome sequencing and a heterozygous nonsense c.1243G>T, p.(Glu415*) pathogenic variant was detected in the ACAN gene. The same variant was found in his phenotypically similar father. Our patient is the second case with ptosis.

Discussion: ACAN gene mutation should be considered in the differential diagnosis of patients with idiopathic short stature. The development and widespread use of next-generation sequencing technology has increased the diagnostic and treatment possibilities.

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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.