EDAR基因中的一种新型剪接位点突变是一个巴基斯坦家庭常染色体隐性少汗型外胚层发育不良的病因。
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
作者信息
Wasif Naveed, Tariq Muhammad, Ali Ghazanfar, Hassan Muhammad Jawad, Ahmad Wasim
机构信息
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
出版信息
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。
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