Ultrastructure of skin lesions and mutations in the FERMT1 gene in a patient with Kindler syndrome

VernacularTitle:一例Kindler综合征患者皮损超微结构及FERMT1基因突变分析
Author: Zhimiao LIN ; Yanhong TAN ; Zhihong MA ; Quan CHEN ; Yun WANG ; Xiuying TANG ; Suxia WANG ; Yong YANG
Publication Type:Journal Article
Keywords: Kindler syndrome; FERMT1 gene; DNA mutational analysis; Microscopy,electron,transmission
From: Chinese Journal of Dermatology 2010;43(10):677-679
CountryChina
Language:Chinese
Abstract: Objective To study cutaneous ultrastructural changes and FERMT1 gene mutations in a patient with Kindler syndrome. Methods Clinical data were collected, and tissue samples obtained from the lesions of poikiloderma were observed by using transmission electron microscopy. Fifteen coding exons and their flanking sequences of the FERMT1 gene were amplified by PCR and DNA sequencing was followed.Results Reduplication of lamina densa was seen between the dermal-epidermal junctions of the lesional skin. The patient was found to be homozygous for a novel splice-site mutation (IVS9 + 1G ＞ A) in FERMT1 gene, and his parents were heterozygous for it. The mutation was undetected in fifty normal control individuals.Conclusions Transmission electron microscopy may serve as an ancillary examination for the diagnosis of Kindler syndrome. The IVS9+1G＞A mutation of FERMT1 gene may contribute to the clinical phenotype of Kindler syndrome in this patient.