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Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.


ABSTRACT: 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.

SUBMITTER: Zhou T 

PROVIDER: S-EPMC5934830 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.

Zhou Taifeng T   Wang Yongqian Y   Zhou Hang H   Liao Zhiheng Z   Gao Bo B   Su Deying D   Zheng Shuhui S   Xu Caixia C   Su Peiqiang P  

BMC medical genetics 20180503 1


<h4>Background</h4>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.<h4>Case prese  ...[more]

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