中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (12): 859-863.doi: 10.12144/zgmfskin202312859

• 论著 • 上一篇    下一篇

遗传性单纯性少毛症一家系APCDD1基因突变研究

齐思思,缪盈,徐峰,盛友渔,胡瑞铭,赵俊,周丽娟,杨勤萍   

  1. 复旦大学附属华山医院皮肤科，上海，200041
  • 出版日期:2023-12-15 发布日期:2023-11-21

Mutation of APCDD1 gene in a family with hereditary hypotrichosis simplex

QI Sisi, MIAO Ying, XU Feng, SHENG Youyu, HU Ruiming, ZHAO Jun, ZHOU Lijuan, YANG Qinping   

  1. Department of Dermatology, Huashan Hospital, Fudan University, Shanghai 200041, China
  • Online:2023-12-15 Published:2023-11-21

PDF (PC)

81

摘要： 目的：研究中国汉族遗传性单纯性少毛症一家系的致病基因。方法：收集该家系流行病学和临床资料，提取家系成员外周血DNA，同时选取无亲缘关系的100例健康汉族人基因组DNA样品作为对照，采用PCR技术扩增APCDD1、RPL21、SNRPE和CDSN基因所有外显子及其侧翼序列，用Sanger法测序检测基因突变。结果：该家系共5代，患者13例，正常22例。患病者出生时毛发均正常，后出现进行性头发脱落和头发生长缓慢，体毛稀少，眉毛、睫毛正常。本次实验共采集8例患者4名正常人外周血进行DNA检测。基因测序发现该家系患者存在APCDD1基因杂合突变C.26 T>G（p.Leu9Arg）。家系中未患病个体及100例健康对照均未发现该突变。其他三个基因RPL21、SNRPE和CDSN在家系全体成员中均未检测到变异。结论：APCDD1基因的杂合突变C.26 T>G（p.Leu9Arg）可能与该家系遗传性单纯性少毛症发病有关。

关键词: 遗传性单纯性少毛症, 少毛症1型, APCDD1基因, 基因突变

Abstract: Objective: To report a Chinese Han family with hereditary hypotrichosis simplex caused by APCDD1 gene mutation. Methods: The epidemiological and clinical data were collected. Genomic DNA was extracted from peripheral blood of the family members, and genomic DNA samples from 100 unrelated healthy Han people were selected as controls. All exons and flanking sequences of APCDD1, RPL21, SNRPE and CDSN genes were amplified by PCR, and Sanger sequencing was used to detect potential gene mutations. Results: There were 5 generations in this family, including 13 patients and 22 normal cases. All patients were born with normal hair, then began to develop progressive hair loss and slow hair growth, sparse body hair, normal eyebrows and eyelashes. DNA was extracted only from 8 patients and 4 normals of this family for gene mutation detection. There was a recurrent heterozygous mutation of C.26 T>G（p.Leu9Arg）in APCDD1 gene, which was not found in unaffected individuals of the family and 100 healthy controls. For the other three genes, RPL21, SNRPE and CDSN, no sequence variants were detected in all members of the family. Conclusion: The heterozygous mutation of C.26 T>G（p.Leu9Arg） in APCDD1 gene may be the genetic cause of hereditary hypotrichosis simplex in this family.

Key words: hereditary hypotrichosis simplex, hypotrichosis 1, APCDD1 gene, mutation