中国麻风皮肤病杂志 ›› 2024, Vol. 40 ›› Issue (11): 761-764.doi: 10.12144/zgmfskin202411761

• 论著 • 上一篇    下一篇

ALOXE3基因突变致轻型常染色体隐性先天性鱼鳞病一例

曾琴1,2,卢芳琪1,王雨蒙2,何伟1,2,曹巧玉2,陈付英2,王树翠1,2,黄海生1,2,李明2   

  1. 1安徽理工大学第一附属医院皮肤科，安徽淮南，232001；2复旦大学附属儿科医院皮肤科，上海，201102
  • 出版日期:2024-11-15 发布日期:2024-10-14

ALOXE3 gene mutations lead to autosomal recessive congenital ichthyosis with mild manifestation

ZENG Qin1，2, LU Fangqi1, WANG Yumeng2, HE Wei1，2, CAO Qiaoyu2, CHEN Fuying2, WANG Shucui1，2, HUANG Haisheng1，2, LI Ming2   

  1. 1 Department of Dermatology, First Affiliated Hospital, Anhui University of Science & Technology, Huainan 232001, China; 2 Departement of Dermatology，The Children's Hospital of Fudan University，Shanghai 201102, China
  • Online:2024-11-15 Published:2024-10-14

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摘要： 目的：检测1例常染色体隐性先天性鱼鳞病家系的基因突变情况。方法：提取患者及其父母、100名健康对照外周血DNA，对患者DNA行高通量测序，确定突变位点，再用 Sanger测序法对患者和其父母的DNA进行双向验证。结果：在患者DNA中检测到ALOXE3基因c.1208A>G（p.His403Arg）及c.1131del （p.Ile378Sfs*70）复合杂合突变；母亲检出c.1208A>G（p.His403Arg）杂合变异，父亲检出c.1131del （p.Ile378Sfs*70）杂合变异。在检出的2个突变中，移码突变c.1131del为首次报道的突变。100名健康对照者均未见相同突变。结论：本例患者检测到ALOXE3基因c.1208A>G及c.1131del 复合杂合突变，推测错义突变c.1208A>G的存在可能是患者临床表现较轻的原因。新报道的突变（c.1131del）丰富了该病基因突变谱。

关键词: 常染色体隐性先天性鱼鳞病, ALOXE3基因, 复合杂合突变

Abstract: Objective: To detect genetic mutations in a family with autosomal recessive congenital ichthyosis. Methods: DNA was extracted from the peripheral blood of the patient, his parents and 100 healthy controls. Next-generation high-throughput sequencing was performed to identify mutation sites of the proband's DNA, and which were verified by Sanger sequencing in both the proband and the parents. Results: The compound heterozygous mutations of c.1208A>G (p.His403Arg) and c.1131del (p.Ile378Sfs*70) in the ALOXE3 gene were identified in the patient, the mother was found to have heterozygous variation of c.1208A>G (p.His403Arg), while the father was discovered with heterozygous variation of c.1131del (p.Ile378Sfs*70). The mutation of c.1131del was reported for the first time. None of the 100 healthy controls had the same mutation. Conclusion: Compound heterozygous mutations c.1208A>G and c.1131del in the ALOXE3 gene were identified in a patient of autosomal recessive congenital ichthyosis with mild manifestations. The missense mutation c.1208A>G is speculated to contribute to the milder clinical phenotype in the patient. This newly mutation of c.1131del in the ALOXE3 gene enriches the spectrum of autosomal recessive congenital ichthyosis.

Key words: autosomal recessive congenital ichthyosis, ALOXE3 gene, compound heterozygous mutation