Wasif Naveed, Tariq Muhammad, Ali Ghazanfar, Hassan Muhammad Jawad, Ahmad Wasim
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Pediatr Dermatol. 2010 Jan-Feb;27(1):106-8. doi: 10.1111/j.1525-1470.2009.01062.x.
Hypohidrotic ectodermal dysplasia is a rare congenital disorder that results in abnormalities in the structures of ectodermal origin: hair, teeth, and eccrine sweat glands. DNA sequence analysis of EDAR gene in a Pakistani family, demonstrating autosomal recessive form of hypohidrotic ectodermal dysplasia, identified a novel homozygous mutation affecting splice donor site of exon 5 [IVS5+1G > or = C] of the gene.
少汗型外胚层发育不良是一种罕见的先天性疾病，会导致外胚层来源的结构出现异常：毛发、牙齿和小汗腺。对一个巴基斯坦家庭的EDAR基因进行DNA序列分析，证实为常染色体隐性遗传型少汗型外胚层发育不良，发现该基因第5外显子[IVS5+1G >或= C]的剪接供体位点存在一种新的纯合突变。
