Ullah A, Raza S I, Ali R H, Naveed A K, Jan A, Rizvi S D A, Satti R, Ahmad W
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Clin Exp Dermatol. 2015 Jan;40(1):78-84. doi: 10.1111/ced.12457. Epub 2014 Sep 23.
Autosomal recessive hypotrichosis is a rare human hereditary disorder presenting as sparse scalp hair or as woolly hair occurring on various parts of the body. Various forms of isolated hypotrichosis have been reported to date. Mutations in at least 11 genes have been reported to cause hypotrichosis.
To investigate the clinical and genetic basis of autosomal recessive hypotrichosis in two unrelated consanguineous families.
Genotyping by highly polymorphic microsatellite markers established linkage in both families to the DSG4 gene on chromosome 18q21. PCR amplification of exons and intron-exon borders of the DSG4 gene was performed, and the products sequenced to search for disease-causing sequence variants.
Clinical investigation revealed typical hypotrichosis in the affected members of one family, while other affected members showed presence of monilethrix-like scalp hair. Sequence analysis of DSG4 revealed a novel deletion mutation (c.85-1_191del) in the affected subjects of both families.
This study further extends the body of evidence that mutations in the DSG4 gene result in both hypotrichosis and monilethrix-like scalp hair.
常染色体隐性少毛症是一种罕见的人类遗传性疾病，表现为头皮毛发稀疏或身体各部位出现羊毛状毛发。迄今为止，已报道了多种形式的孤立性少毛症。据报道，至少11个基因的突变可导致少毛症。
研究两个无血缘关系的近亲家庭中常染色体隐性少毛症的临床和遗传基础。
通过高度多态性微卫星标记进行基因分型，在两个家庭中均确定了与18号染色体q21上的DSG4基因存在连锁关系。对DSG4基因的外显子和内含子-外显子边界进行PCR扩增，并对产物进行测序以寻找致病序列变异。
临床调查显示，一个家庭的患病成员表现出典型的少毛症，而其他患病成员则表现为念珠状发样的头皮毛发。DSG4基因的序列分析显示，两个家庭的患病个体中均存在一种新的缺失突变（c.85-1_191del）。
本研究进一步扩展了证据，表明DSG4基因突变可导致少毛症和念珠状发样的头皮毛发。
