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

BMC Medical Genetics

Yongqian Wang¹  Taifeng Zhou²  Deying Su²  Peiqiang Su²  Hang Zhou²  Zhiheng Liao²  Bo Gao³  Caixia Xu⁴  Shuhui Zheng⁴ 

[1] Department of Musculoskeletal Oncology, First Affiliated Hospital of Sun Yat-sen University;Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University;Department of Spine Surgery, Sun Yat-sen Memorial Hospital;Research Centre for Translational Medicine, First Affiliated Hospital of Sun Yat-sen University;

关键词: Multiple epiphyseal dysplasia;    SLC26A2;    Targeted next-generation sequence;    Compound heterozygote;   

DOI  :  10.1186/s12881-018-0596-7

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown