{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T12:15:10Z","timestamp":1764936910505,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,6,12]],"date-time":"2017-06-12T00:00:00Z","timestamp":1497225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Higher Education Commission (HEC) Islamabad"},{"name":"Higher Education Commission (HEC) Islamabad, Pakistan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal\u2010recessive woolly hair\/hypotrichosis (ARWH\/H) is a rare genetic disorder of hair caused by variants in the <jats:italic>LIPH<\/jats:italic> and <jats:italic>LPAR6<\/jats:italic> genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH\/H, was performed. Haplotype and DNA sequence analysis of the <jats:italic>LIPH<\/jats:italic> gene revealed a novel homozygous nonsense variant (c.688C &gt; T; p.Gln230*) in family A. In two other families, B and C, sequence analysis of the <jats:italic>LPAR6<\/jats:italic> gene revealed a novel homozygous <jats:styled-content>frameshift<\/jats:styled-content> variant (c.68_69dupGCAT; p.Phe24Hisfs*29) and a previously reported missense variant (c.188A &gt; T; p.Asp63Val), respectively. Taken together, our findings will expand the spectrum of variants reported in the <jats:italic>LIPH<\/jats:italic> and <jats:italic>LPAR6<\/jats:italic> genes.<\/jats:p>","DOI":"10.1111\/cga.12226","type":"journal-article","created":{"date-parts":[[2017,4,20]],"date-time":"2017-04-20T01:07:36Z","timestamp":1492650456000},"page":"24-28","source":"Crossref","is-referenced-by-count":6,"title":["Novel sequence variants in the <i>LIPH<\/i> and <i>LPAR6<\/i> genes underlies autosomal recessive woolly hair\/hypotrichosis in consanguineous families"],"prefix":"10.1111","volume":"58","author":[{"given":"Farooq","family":"Ahmad","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University (QAU)  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salma","family":"Sharif","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Azad Jammu and Kashmir  Muzaffarabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Furqan Ubaid","sequence":"additional","affiliation":[{"name":"Azad Jammu and Kashmir Medical College  Muzaffarabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khadim","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University (QAU)  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Nasim","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Azad Jammu and Kashmir  Muzaffarabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University (QAU)  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahid","family":"Azeem","sequence":"additional","affiliation":[{"name":"Azad Jammu and Kashmir Medical College  Muzaffarabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1541-7258","authenticated-orcid":false,"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University (QAU)  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6.9.858"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1133276"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2011.04014.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00273-3"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.12157"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12727"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.84"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700266"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.100"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.19"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M201659200"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0308-265"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.129"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12226","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T11:32:08Z","timestamp":1695987128000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,12]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/cga.12226"],"URL":"https:\/\/doi.org\/10.1111\/cga.12226","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"type":"print","value":"0914-3505"},{"type":"electronic","value":"1741-4520"}],"subject":[],"published":{"date-parts":[[2017,6,12]]}}}