基础医学与临床2024，Vol.44Issue(7)：954-958,5.DOI:10.16352/j.issn.1001-6325.2024.07.0954
KIT杂合大片段缺失导致斑驳病一家系的临床表型
Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family
摘要
Abstract
Objective To identify the pathogenic mutations in a family with piebaldism.Methods Clinical infor-mation and peripheral blood were collected from the patient with piebaldism and their parents.Whole exome se-quencing was performed to identify the potential pathogenic mutations.QPCR was used to determine the deletion of the target gene,while gap-PCR and Sanger sequencing was used to determine the size and the specific deletion site.Results The proband had a heterozygous deletion mutation of approximately 1.74 Mb located at chromosome 4,in-cluding a full length of the pathogenic gene KIT for mottled disease and it was the smallest micro deletion causing isolated piebaldism due to the loss of the KIT.Conclusions The heterozygous deletion including the KIT is a poten-tial cause of the piebaldism phenotype found in this family.关键词
斑驳病/基因缺失/KIT/基因诊断/拷贝数变异(CNV)Key words
piebaldism/gene deletion/KIT/gene diagnosis/copy number variation(CNV)分类
临床医学引用本文复制引用
张睿,谭妍,马东来,王蓉蓉,张学..KIT杂合大片段缺失导致斑驳病一家系的临床表型[J].基础医学与临床,2024,44(7):954-958,5.基金项目
国家重点研发计划(2022YFC2703900) （2022YFC2703900）
国家自然科学基金(82394420、82394423) （82394420、82394423）
中国医学科学院医学与健康科技创新工程(2021-I2M-1-018) （2021-I2M-1-018）
