Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
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中国家庭两兄弟患有多发性骨骺发育不良 4 的 SLC26A2 双新突变：病例报告
DOI：
10.1186/s12881-018-0596-7
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发表时间：
2018-05-03
影响因子：
--
通讯作者：
Su P
中科院分区：
文献类型：
--
作者：
Zhou T;Wang Y;Zhou H;Liao Z;Gao B;Su D;Zheng S;Xu C;Su P
背景：多发性骨骺发育不良(MED)是一种异质性遗传疾病，以各种表型为特征，如身材矮小(轻至中度)、关节畸形、步态异常、脊柱侧弯和短指。SLC26A2基因的隐性突变导致多发性骨盆发育不良-4(MED-4)的表型。在本研究中，我们在一个中国人家系中发现了SLC26A2基因的新的复合杂合子突变，该家系有两个患有MED-4的同胞。病例表现：患者1的X线片显示髋关节发育不良、短指和脊柱侧弯。患者2的放射学检查最近也显示髋关节发育不良。他们两人都被诊断为MED-4。SLC26A2 c.824 T>；C和SLC26A2 c.1198C>；T在该家系中发现，均为双亲遗传，各有1个突变。结论：这是中国人首个SLC26A2突变所致的MED-4家系，提示SLC26A2的这些新的复合杂合突变可能与MED-4有关。
Background:Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of multiple epiphyseal dysplasia-4 (MED-4). In the present study, we identified novel compound heterozygous mutations in the SLC26A2 gene in a Chinese family with two affected sibs with MED-4.Case presentation:Radiographs revealed hip dysplasia, brachydactyly and scoliosis in patient 1. Radiological examinations in patient 2 also showed hip dysplasia recently. Both of them were diagnosed with MED-4. SLC26A2 c.824 T > C and SLC26A2 c.1198C > T were identified in two siblings in this family, which were inherited from both parents, one mutation from each.Conclusions:This is the first Chinese MED-4 family attributed to SLC26A2 mutations, and these results show that these novel compound heterozygous mutations in SLC26A2 contribute to MED-4.
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影响因子：
5
作者：
Silverman, FN
通讯作者：
Silverman, FN
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3.9
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