Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY European journal of medical genetics Pub Date : 2023-12-07 DOI:10.1016/j.ejmg.2023.104894
Kasper V. Seiersen , Tine B. Henriksen , Ted C.K. Andelius , Lotte Andreasen , Tue Diemer , Gudrun Gudmundsdottir , Ida Vogel , Vibike Gjørup , Pernille A. Gregersen
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引用次数: 0

Abstract

Short stature or shortening of the limbs can be the result of a variety of genetic variants. Achondroplasia is the most common cause of disproportionate short stature and is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene (FGFR3).

Short stature homeobox (SHOX) deficiency is caused by loss or defects of the SHOX gene or its enhancer region. It is associated with a spectrum of phenotypes ranging from normal stature to Léri-Weill dyschondrosteosis characterized by mesomelia and short stature or the more severe Langer mesomelic dysplasia in case of biallelic SHOX deficiency.

Little is known about the interactions and phenotypic consequences of achondroplasia in combination with SHOX deficiency, as the literature on this subject is scarce, and no genetically confirmed clinical reports exist. We present the clinical findings in an infant girl with concurrent achondroplasia and SHOX deficiency. We conclude that the clinical findings in infancy are phenotypically compatible with achondroplasia, with no features of the SHOX deficiency evident. This may change over time, as some features of SHOX deficiency only become evident later in life.

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一名丹麦婴儿合并软骨发育不全和矮身材同源染色体(SHOX)基因缺失症
身材矮小或四肢缩短可能是多种基因变异的结果。软骨发育不全症是导致身材矮小不成比例的最常见原因,是由成纤维细胞生长因子受体 3 基因(FGFR3)的致病变异引起的。短身材同源染色体缺失症是由短身材同源染色体基因(SHOX)或其增强区的缺失或缺陷引起的。短身材同源染色体缺失症是由短身材同源染色体基因(SHOX)或其增强子区域缺失或缺陷引起的。它与一系列表型相关,从正常身材到以中胚层畸形和短身材为特征的 Léri-Weill 软骨发育不良症,或者在双倍性 SHOX 缺失的情况下更严重的 Langer 中胚层发育不良症。由于这方面的文献很少,而且没有经基因证实的临床报告,因此人们对软骨发育不良合并 SHOX 缺失的相互作用和表型后果知之甚少。我们介绍了一名同时患有软骨发育不全和 SHOX 缺乏症的女婴的临床表现。我们的结论是,婴儿期的临床表现与软骨发育不全相符,没有明显的 SHOX 缺乏症特征。随着时间的推移,这种情况可能会发生变化,因为 SHOX 缺乏症的某些特征只有在晚期才会显现出来。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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