摘要
目的分析1个Waardenburg综合征1型家系成员的临床表型和基因突变。方法收集1个Waardenburg综合征患者家系的临床资料,采用Sanger测序法对家系成员进行了Waardenburg综合征相关基因的外显子测序分析。结果家系中共有1名患者,先证者有Waardenburg综合征1型的先天性感音神经性耳聋和虹膜色素异常的临床特征,携带PAX3基因c.206delCCTGC(p.Pro69Argfs*43)新发杂合致病突变;先证者父亲和母亲PAX3基因序列测序分析均未见异常。结论在一个Waardenburg综合征1型家系中发现未见报道的PAX3基因新发突变,对于该病遗传咨询和产前诊断具有重要意义。
Objective To report clinical features and genetic mutations in a family with Waardenburg syndrome type 1. Methods Completely clinical features of the family members were recorded and their genetic sequencing were performed.Results There was a patient with typical clinical features of Waardenburg syndrome type 1, bilateral congenital sensorineural deafness and heterochromia iridis. He was found to carry heterozygous mutation c.206 delCCTGC(p.Pro69 Argfs*43) in the PAX3 gene, while his parents were negative. Conclusion A novel PAX3 gene mutation has been found in a family with Waardenburg syndrome. Genetic counseling and prenatal diagnosis for this disease is of great significance.
作者
陈丁莉
李守霞
郭丽丽
张小芳
孙彩霞
李书瑞
CHEN Dingli;LI Shouxia;GUO Lili;ZHANG Xiaofang;SUN Caixia;LI Shurui(Central Hospital of Handan City,Handan,Hebei 056008,China)
出处
《中国优生与遗传杂志》
2021年第11期1607-1609,共3页
Chinese Journal of Birth Health & Heredity
