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与突变相关的脊柱腕跗骨融合症：一例报告

and mutation-related spondylocarpotarsal synostosis: a case report.

作者信息

Lee Joonhwan, Ryu Byungju, Kim Yunhee, Lee Eunyoung

机构信息

Department of Physical Medicine and Rehabilitation, Sahmyook Medical Center, Seoul, Korea.

Department of Physical Medicine and Rehabilitation, Loving Care Clinic, Seongnam, Korea.

出版信息

J Yeungnam Med Sci. 2025;42:15. doi: 10.12701/jyms.2024.01137. Epub 2024 Dec 11.

DOI:10.12701/jyms.2024.01137
PMID:39659197
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11812068/
Abstract

Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

摘要

脊椎腕跗骨联合综合征（SCTS）是一种罕见的遗传性疾病，其特征为椎体融合、身材矮小和骨骼异常。SCTS主要与细丝蛋白B的突变有关。然而，在本报告中，我们介绍了一例独特的SCTS病例，患者为一名28岁男性，主诉颈部和肩部疼痛持续1年。他的临床表现包括桡尺骨联合、颈椎异常（脊柱侧弯和C1后弓发育不全）以及多指畸形病史。基因分析显示GMNN和DLL1存在突变。据我们所知，这是关于SCTS与这些基因关联的首次报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/616c07878b29/jyms-2024-01137f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/a2753b91e448/jyms-2024-01137f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/ad24cc9fea40/jyms-2024-01137f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/abdc27e23c1c/jyms-2024-01137f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/616c07878b29/jyms-2024-01137f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/a2753b91e448/jyms-2024-01137f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/ad24cc9fea40/jyms-2024-01137f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/abdc27e23c1c/jyms-2024-01137f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bbcc/11812068/616c07878b29/jyms-2024-01137f4.jpg

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本文引用的文献

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haploinsufficiency causes brain abnormalities with functional relevance.单倍剂量不足会导致具有功能相关性的大脑异常。
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Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita.基因突变：先天性脊椎骨骺发育不良的机制
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Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.隐性脊柱骨骺骨连接综合征系由 MYH3 中的变异的复合杂合性引起。
Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24.
6
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.二聚化结构域中细丝蛋白B功能丧失突变导致伴有肋骨异常的常染色体隐性脊柱腕跗骨融合综合征。
Hum Mutat. 2017 May;38(5):540-547. doi: 10.1002/humu.23186. Epub 2017 Feb 27.
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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.新生GMNN突变导致与迈尔-戈林综合征相关的常染色体显性原发性侏儒症。
Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients.迈尔综合征和LAPS综合征：32例患者的临床与分子学综述
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