{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:56:20Z","timestamp":1762869380241,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T00:00:00Z","timestamp":1719187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of hair on the scalp and rest of the body. In a few cases, hair loss is accompanied by the appearance of keratotic papules on the body. It is inherited in an autosomal recessive manner. Sequence variants in the <jats:italic>HR<\/jats:italic> (hairless) gene are responsible for this hair abnormality. Here, we present nine consanguineous families and one nonconsanguineous family with clinical manifestations of APL. Whole exome followed by Sanger sequencing and\/or direct Sanger sequencing was performed to identify pathogenic variants. The study revealed seven novel pathogenic variants c.794del;p.(Pro265Argfs*98), c.2921\u20102936del;p.(Tyr974Leufs*16), c.2889C&gt;A;p.(Cys963*), c.2689C&gt;T;p.(Gln897*), c.3186_3187dup;p.(Gln1063Profs*43), c.560dup;p.(Tyr188Ilefs*131), c.2203+5G&gt;C, c.2776+5G&gt;A, and the previously reported variant c.1837C&gt;T;p.(Arg613*) in <jats:italic>HR<\/jats:italic> in these families. The study not only expands the mutational spectrum in the <jats:italic>HR<\/jats:italic> gene but also highlights the unusual phenotypic findings and will facilitate genetic counseling of families with members showing various types of hair loss disorders in the local population.<\/jats:p>","DOI":"10.1111\/1346-8138.17349","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T12:49:59Z","timestamp":1719233399000},"page":"515-519","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel pathogenic variants in <scp><i>HR<\/i><\/scp> underlie atrichia with papular lesions in a cohort of 10 families"],"prefix":"10.1111","volume":"52","author":[{"given":"Kifayat","family":"Ullah","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sohail","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Balochistan  Quetta Pakistan"},{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty &amp; University Hospital Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Cesarato","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty &amp; University Hospital Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing","family":"Xiong","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty &amp; University Hospital Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Taj","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naushaba","family":"Manan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Wehner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty &amp; University Hospital Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Javed","family":"Khan","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Balochistan  Quetta Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabba","family":"Mehmood","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences National University of Medical Sciences  Rawalpindi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Sharif Hasni","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Balochistan  Quetta Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariusz","family":"Michna","sequence":"additional","affiliation":[{"name":"Elisabeth\u2010Hospital Essen  Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rehmana","family":"Waris","sequence":"additional","affiliation":[{"name":"Children Hospital PIMS, Shaheed Zulfiqar Ali Bhutto Medical University Islamabad  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henning","family":"Hamm","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology, and Allergology University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina C.","family":"Betz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn, Medical Faculty &amp; 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