一短指畸形家系临床特征调查及ROR2基因突变分析

Investigation of clinical features in a family with brachydactyly type B1 and mutation analysis of the ROR2 gene

目的研究福建省一个汉族B1型短指(趾)家系的临床特征及致病基因突变分析。方法在获得知情同意后对该家系成员进行病史采集及临床检查,对2例正常亲属、8例患者及50例正常对照组进行采血提取基因组DNA,扩增ROR2基因8号、9号外显子部分区域,产物进行一代测序。结果该家系短指(趾)为B1型,常染色体显性遗传;家系中15个成员8个患者发病,占总成员53.3%,患者在9号外显子存在c.2265C>A无义突变,与国内外报道家系突变位点一致。结论 B1型短指(趾)中ROR2基因9号外显子c.2265C>A为常见致病位点,可作为临床普查靶点。

Objective： Investigation of clinical features and mutation analysis of the pathogenic gene in a Han family with Brachydactyly type B1 in Fujian Province. Methods： we collect medical history and clinical examination of the family members after obtaining the informed consent. Blood was taken from 2 normal relatives, 8 patients and 50 normal controls after informed consent and DNA extracted according to standard procedures.Exon 8 and partial region of exon 9 of ROR2 gene were amplified and the products were sequenced generation. Results： We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 （BDB1） . Eight persons had disease, accounting for 53.3% of the total members. There is a c.2265C 〉A nonsense mutation in exon 9 of ROR2 gene of a family with BDB 1, consistent with the site that related literture exposed. Conclusion. The pathogenic nonsense mutation in exon 9 of ROR2 gene can be used as a clinical survey target.