A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. (23rd September 2014)

• Record Type: Journal Article
• Authors: Ullah, A.; Raza, S. I.; Ali, R. H.; Naveed, A. K.; Jan, A.; Rizvi, S. D. A.; Satti, R.; Ahmad, W.
• Is Part Of: Clinical and experimental dermatology. Volume 40:Number 1(2015)
• Page Start: 78
• Page End: 84
• Publication Date: 2014-09-23
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.12457
• Languages: English
• ISSNs: 0307-6938

Abstract

<abstract abstract-type="main" id="ced12457-abs-0001"> <title>Summary</title> <sec id="ced12457-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="ced12457-sec-0002" sec-type="section"> <title>Aims</title> <p>To investigate the clinical and genetic basis of autosomal recessive hypotrichosis in two unrelated consanguineous families.</p> </sec> <sec id="ced12457-sec-0003" sec-type="section"> <title>Methods</title> <p>Genotyping by highly polymorphic microsatellite markers established linkage in both families to the <italic>DSG4</italic> gene on chromosome 18q21. PCR amplification of exons and intron–exon borders of the <italic>DSG4</italic> gene was performed, and the products sequenced to search for disease‐causing sequence variants.</p> </sec> <sec id="ced12457-sec-0004" sec-type="section"> <title>Results</title> <p>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 <italic>DSG4</italic> revealed a novel deletion mutation (c.85‐1_191del) in the affected subjects of both families.</p> </sec> <sec id="ced12457-sec-0005" sec-type="section"> <title>Conclusions</title> <p>This study further extends the body of evidence that mutations in the <italic>DSG4</italic> gene result in both hypotrichosis and monilethrix‐like scalp hair.</p> </sec> </abstract>