caa a22 4500 445861738 CHVBK 20180317145445.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s00439-010-0938-9 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0938-9 Novel mutations in the keratin-74 ( KRT74 ) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families [Elektronische Daten] [Naveed Wasif, Syed Naqvi, Sulman Basit, Nadir Ali, Muhammad Ansar, Wasim Ahmad] Autosomal dominant woolly hair (ADWH) is an inherited condition of tightly curled and twisted scalp hair. Recently, a mutation in human keratin-74 (KRT74) gene has been shown to cause this form of hereditary hair disorder. In the present study, we have described two families (A and B) having multiple individuals affected with autosomal dominant form of hair loss disorders. In family A, 10 individuals showed ADWH phenotype while in the family B, 14 individuals showed hypotrichosis of the scalp. Genotyping using polymorphic microsatellite markers showed linkage of both the families to type II keratin gene cluster on the chromosome 12q12-14.1. Mutation analysis of the KRT74 gene identified two novel mutations in the affected individuals of the families. The sequence analysis revealed a splice acceptor site mutation (c.IVS8-1G>A) in family A and a missense variant (c.1444G>A, p.Asp482Asn) in family B. Mutations identified in the present study extend the body of evidence implicating the KRT74 gene in the pathogenesis of autosomal dominant hair loss disorders. Springer-Verlag, 2010 Wasif Naveed Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut Naqvi Syed Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut Basit Sulman Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut Ali Nadir Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut Ansar Muhammad Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut Ahmad Wasim Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut Human Genetics Springer-Verlag 129/4(2011-04-01), 419-424 0340-6717 129:4<419 2011 129 439 https://doi.org/10.1007/s00439-010-0938-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0938-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wasif Naveed Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Naqvi Syed Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Basit Sulman Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Ali Nadir Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Ansar Muhammad Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Ahmad Wasim Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/4(2011-04-01), 419-424 0340-6717 129:4<419 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer