{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T08:57:18Z","timestamp":1780563438200,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,12,18]],"date-time":"2015-12-18T00:00:00Z","timestamp":1450396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Atrichia with papular lesions (<jats:styled-content style=\"fixed-case\">APL<\/jats:styled-content>) is a rare irreversible form of complete hair loss inherited in autosomal recessive manner. Hair loss is often followed by the appearance of multiple keratin\u2010filled cysts or papules on exterior parts of the body. This phenotype results due to mutations in the human hairless gene (<jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic>) mapped on chromosome 8p21.3. The present study was aimed to search for disease\u2010causing sequence variants in the <jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic> gene in five consanguineous families exhibiting features of <jats:styled-content style=\"fixed-case\">APL<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Linkage in five Pakistani lineal consanguineous families, displaying features of APL, was tested using microsatellite markers flanking the <jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic> gene on chromosome 8p21.3. After constructing the haplotypes, variants in the gene <jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic> were searched by dideoxy\u2010chain termination sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Haplotype analysis established linkage in all five families to the <jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic> gene located on chromosome 8p.21.3. Subsequently, sequencing <jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic> identified a novel homozygous nonsense variant (c.2541G&gt;A, p.Trp847*) in one and previously reported two pathogenic variants (p.Cys690*, p.Pro1157Arg) in the other four families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Mutations identified extend the spectrum of mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic> gene resulting in <jats:styled-content style=\"fixed-case\">APL<\/jats:styled-content>. Characterizing the clinical spectrum resulting from the disease\u2010causing homozygous variants in the <jats:italic><jats:styled-content style=\"fixed-case\">HR<\/jats:styled-content><\/jats:italic> gene will direct clinical care of the family members.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.13109","type":"journal-article","created":{"date-parts":[[2015,12,18]],"date-time":"2015-12-18T08:48:43Z","timestamp":1450428523000},"page":"977-981","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Disease causing homozygous variants in the human hairless gene"],"prefix":"10.1111","volume":"55","author":[{"given":"Sabba","family":"Mehmood","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abid","family":"Jan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"},{"name":"Department of Biotechnology &amp; 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