Phenotype of piebaldism resulted from heterozygous large fragment KIT deletion in one family

VernacularTitle:KIT杂合大片段缺失导致斑驳病一家系的临床表型
Author: Rui ZHANG ¹ ; Yan TAN ; Donglai MA ; Rongrong WANG ; Xue ZHANG
Author Information

1. 中国医学科学院基础医学研究所北京协和医学院基础学院麦库西克-张孝骞协和遗传医学中心疑难重症及罕见病国家重点实验室,北京 100005
Keywords: piebaldism; gene deletion; KIT; gene diagnosis; copy number variation(CNV)
From: Basic & Clinical Medicine 2024;44(7):954-958
CountryChina
Language:Chinese
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.