Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Elsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor, Manuel Parrón-Pajares, Sonia Pajares, Laura Gort, Julián Nevado, Pablo Lapunzina, Antonio Leiva-Gea, Karen E Heath
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引用次数: 0

Abstract

Spondyloepiphyseal dysplasia, Kondo-Fu (SEDKF) type is a rare skeletal dysplasia caused by biallelic variants in MBTPS1. To date, only seven SEDKF cases have been reported in the literature. Here, we report the eighth, a 20-year-old male presenting with severe disproportionate short stature, spondyloepiphyseal dysplasia, and the previously unreported feature of cutis laxa, which led to the clinical suspicion of geroderma osteodysplasica. Whole exome sequencing identified compound heterozygosity for a predicted splicing variant and a complete gene deletion in the patient. Functional validation using RNA splicing assays confirmed aberrant splicing, establishing the molecular diagnosis of SEDKF. This case broadens the clinical and molecular spectrum of MBTPS1-related disorders by presenting a novel combination of variants and phenotypic features.

8例脊柱骨骺发育不良(近藤-富型)的新MBTPS1变异和皮肤松弛表型
Kondo-Fu (SEDKF)型是一种罕见的骨骼发育不良,由MBTPS1的双等位基因变异引起。迄今为止,文献中仅报告了7例SEDKF病例。在这里,我们报告第八位患者,一名20岁男性,表现为严重不成比例的身材矮小,脊柱骨骺发育不良,以及以前未报道的皮肤松弛特征,这导致临床怀疑老年病骨质增生异常。全外显子组测序鉴定了预测剪接变异的复合杂合性和患者的完全基因缺失。利用RNA剪接试验进行功能验证,证实了异常剪接,建立了SEDKF的分子诊断。该病例通过呈现变异和表型特征的新组合,拓宽了mbtps1相关疾病的临床和分子谱。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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