一个Waardenburg综合征患儿家系的PAX3基因突变分析

Genetic analysis of PAX3 gene in a Waardenburg syndrome family

目的分析一个Waardenburg综合征患儿家系成员的临床表现和基因突变。方法收集1个Waardenburg综合征患者家系的临床资料,并对此家系5位成员的PAX3基因的蛋白编码序列进行测序分析。结果患儿及其母亲具有典型的Waardenburg综合征I型的听力障碍、内眦异位以及色素异常的临床特征,均携带PAX3基因ivs5-1G>A杂合致病突变;患儿父亲、外祖父母PAX3基因序列测序分析均未见异常。结论在一个Waardenburg综合征患儿家系发现未见报道的PAX3基因新发突变,基因诊断是确诊Waardenburg综合征型别的重要手段。

Objective To report clinical features and genetic mutations in a family with Waardenburg syndrome type I.Methods Clinical data of a family with Waardenburg syndrome were collected and the open reading frame of gene PAX3 was sequenced in five family members. Results The proband newborn and his mother showed typical clinical features of Waardenburg syndrome type I： bilateral congenital sensorineural deafness, heterochromia iridis, dystopia canthorum and broadening of nasal root. Both of them were found to carry heterozygous mutation ivs5-1GA in the PAX3 gene, while the father and maternal grandparents were tested negative. Conclusion A novel PAX3 gene mutation has been found in a family with Waardenburg syndrome. Genetic diagnosis is an important means for diagnosis of subtypes of Waardenburg syndrome.