一个家族性进行性色素沉着和色素减退症家系的临床表型及遗传学分析  

Clinical phenotype and genetic analysis of a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation

作　　者：许仲炜 苏喆[1] 郑荣飞 侯丽萍[1] 张龙江[1] Xu Zhongwei;Su Zhe;Zheng Rongfei;Hou Liping;Zhang Longjiang(Department of Endocrinology,Shenzhen Children′s Hospital,Shenzhen,Guangdong 518038,China)

机构地区：[1]深圳市儿童医院内分泌科,深圳518038

出　　处：《中华医学遗传学杂志》2022年第12期1360-1365,共6页Chinese Journal of Medical Genetics

基　　金：广东省高水平医院建设专项经费(SZGSP012);深圳市科技创新委员会可持续发展项目(专2021N066)。

摘　　要：目的:探讨1个家族性进行性色素沉着和色素减退症(familial progressive hyperpigmentation and hypopigmentation,FPHH)家系的临床表型和基因变异特点。方法:收集患儿的临床资料及家族史,采集患儿及其父母、大姐、二姐的静脉血样以提取DNA,通过高通量测序分析其致病基因,并对候选变异进行Sanger测序验证。结果:先证者主要表现为进行性加重的色素沉着和色素脱失,伴身高增长缓慢。高通量测序提示其携带KITLG基因c.105T>A(p.Asn35Lys)杂合变异,既往未见报道。Sanger测序证实该变异与表型存在共分离。结论:对于皮肤色素沉着、色素脱失斑且随年龄加重的患儿,需警惕FPHH的可能性。KITLG基因c.105T>A(p.Asn35Lys)杂合变异可能是本例FPHH家系的遗传学病因。Objective To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation(FPHH).Methods Clinical data and family history for a child with FPHH were collected.Peripheral blood samples were collected from the child,his parents and two sisters.Following the extraction of DNA,high-throughput sequencing was carried out to screen for genetic variant associated with the disease.Candidate variant was verified by Sanger sequencing of his family members.Results The main clinical features of the proband have included progressive hyperpigmentation and hypopigmentation.High-throughput sequencing revealed that he has harbored a heterozygous c.105T>A(p.Asn35Lys)variant of the KITLG gene,which was unreported previously.Sanger sequencing confirmed that the variant has co-segregated with the disease phenotype in his pedigree.Conclusion For infants with progressive skin pigmentation and hypopigmentation spots,FPHH should be suspected.The heterozygous c.105T>A(p.Asn35Lys)variant of the KITLG gene probably underlay the FPHH in this pedigree.

关 键 词：家族性进行性色素沉着和色素减退症 KITLG基因 基因变异 

分 类 号：R725.9[医药卫生—儿科]