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一例表现为身材矮小的埃勒斯-当洛综合征：导致脊椎发育不良性埃勒斯-当洛综合征的一种新突变。

A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in causing spondylodysplastic Ehlers-Danlos syndrome.

作者信息

Agrawal Poorvi, Kaur Harpreet, Kondekar Alpana, Rathi Surbhi

机构信息

Department of Paediatrics, TNMC and BYL Nair Ch Hospital, Mumbai, India.

出版信息

Oxf Med Case Reports. 2023 Jan 28;2023(1):omac107. doi: 10.1093/omcr/omac107. eCollection 2023 Jan.

DOI:10.1093/omcr/omac107
PMID:36727144
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9885422/
Abstract

Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by a varying degree of skin hyperextensibility and joint hypermobility. EDS is classified into 13 subtypes according to the most recent classification. These subtypes are clinically and genetically heterogenous. The spondylodysplastic subvariety of EDS (spEDS) is caused by homozygous mutations in B4GALT7, B3GALT6 and SLC39A13. To date, 13 individuals with molecularly diagnosed SLC39A13-related spEDS have been reported. The spEDS caused by biallelic pathogenic SLC39A13 variants are characterized by short stature, protuberant eyes with bluish sclera, finely wrinkled palms, hypermobile joints, hyperextensible skin and characteristic radiological findings. Herein, we report a case of 7-year-old-female child with spEDS associated with novel homozygous (pathogenic/likely pathogenic) missense variation of the SLC39A13 gene.

摘要

埃勒斯-当洛综合征（EDS）是一种遗传性结缔组织疾病，其特征为不同程度的皮肤过度伸展性和关节活动过度。根据最新分类，EDS分为13个亚型。这些亚型在临床和遗传上具有异质性。EDS的脊柱发育不良亚型（spEDS）由B4GALT7、B3GALT6和SLC39A13的纯合突变引起。迄今为止，已报道了13例分子诊断为SLC39A13相关spEDS的个体。由双等位基因致病性SLC39A13变异引起的spEDS的特征为身材矮小、眼球突出且巩膜呈蓝色、手掌细纹、关节活动过度、皮肤过度伸展以及特征性影像学表现。在此，我们报告一例7岁女童患有与SLC39A13基因新型纯合（致病性/可能致病性）错义变异相关的spEDS。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/64cba93ad06f/omac107f7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/fcec5c730447/omac107f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/cf34ac19c8fb/omac107f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/bc679633edfd/omac107f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/47840fc34ef5/omac107f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/82cfe962656e/omac107f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/e145580fb3a0/omac107f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/64cba93ad06f/omac107f7.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/fcec5c730447/omac107f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/cf34ac19c8fb/omac107f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/bc679633edfd/omac107f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/47840fc34ef5/omac107f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/82cfe962656e/omac107f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/e145580fb3a0/omac107f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bc6d/9885422/64cba93ad06f/omac107f7.jpg

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Novel Nonsense Mutation in Initially Presenting as Myopathy: Case Report and Review of the Literature.最初表现为肌病的新型无义突变：病例报告及文献综述
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