一例罕见的X连锁鱼鳞病合并杜氏肌营养不良患儿家系的遗传学分析

Genetic analysis for a child with co-morbid X-linked ichthyosis and Duchenne muscular dystrophy

目的对1例X连锁鱼鳞病(X-linked ichthyosis,XLI)合并杜氏肌营养不良(Duchenne muscular dystrophy,DMD)的患儿及其家系成员进行遗传学分析,明确其致病原因。方法采集先证者及其父母的外周血样,提取DNA,对先证者进行全外显子测序(whole exome sequencing,WES)。应用多重连接探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)分别检测患儿的STS与DMD基因。结果检测发现患儿携带STS基因半合子缺失及DMD基因第48~54外显子区域的半合子缺失。结论先证者同时患有XLI与DMD,非常罕见。

Objective To carry out genetic analysis for a child with co-morbid X-linked ichthyosis(XLI)and Duchenne muscular dystrophy(DMD).Methods Whole exome sequencing(WES)and multiple ligation-dependent probe amplification(MLPA)were used to detect potential deletions in the STS and DMD genes.Results The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene.Conclusion The child has comorbid XLI and DMD,which is extremely rare.