{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T09:26:22Z","timestamp":1769246782777,"version":"3.49.0"},"reference-count":23,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T00:00:00Z","timestamp":1647388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T00:00:00Z","timestamp":1654041600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,6,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hereditary hypertrichosis (HH) is characterized by excessive hair growth on various body areas, which is independent of the individual's age. This rare hair disorder has been classified by its origin (genetic or acquired), age of onset, breadth of hair distribution (universal or localized) and the affected body areas. HH is often linked to several additional congenital abnormalities involving teeth, heart and bones. Human HH is associated with heterozygous genomic duplications and deletions in the chromosomal region 17q24.2\u2013q24.3, containing genes such as ABCA5, ABCA6, ABCA10 and MAP2K6. Recently, a homozygous splice-site variant in ABCA5 has been reported to cause autosomal recessive congenital generalized hypertrichosis terminalis (CGHT; OMIM 135400).<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>To investigate the clinical and genetic basis of autosomal recessive hypertrichosis in a large consanguineous Pakistani family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the present study, we characterized a family of Pakistani origin segregating CGHT in an autosomal recessive pattern, using whole exome sequencing followed by Sanger sequencing<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel 2-bp intragenic deletion [NM_172232.4(ABCA5);c.977_978delAT] causing a frameshift variant (p.His326ArgfsTer5) in ABCA5.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>To our knowledge, this is the first intragenic deletion in ABCA5 underlying CGHT. The findings further validate the involvement of ABCA5 in hair development. The study will facilitate genetic counselling of families carrying CGHT-related features in Pakistani and other populations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ced.15128","type":"journal-article","created":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T08:23:57Z","timestamp":1644654237000},"page":"1137-1143","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis"],"prefix":"10.1093","volume":"47","author":[{"given":"Rubab","family":"Raza","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid-i-Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asmat","family":"Ullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid-i-Azam University Islamabad Pakistan"},{"name":"Novo Nordisk Foundation Center for Basic Metabolic Research Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark"},{"name":"Department of Pediatrics Shaheed Zulfiqar Ali Bhutto Medical University Pakistan Institute of Medical Sciences Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nighat","family":"Haider","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shaheed Zulfiqar Ali Bhutto Medical University Pakistan Institute of Medical Sciences Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jai","family":"Krishin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shaheed Zulfiqar Ali Bhutto Medical University Pakistan Institute of Medical Sciences Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muqadar","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shaheed Zulfiqar Ali Bhutto Medical University Pakistan Institute of Medical Sciences Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fati Ullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid-i-Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Abdullah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid-i-Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torben","family":"Hansen","sequence":"additional","affiliation":[{"name":"Novo Nordisk Foundation Center for Basic Metabolic Research Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed Irfan","family":"Raza","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid-i-Azam University Islamabad Pakistan"},{"name":"HBS Medical and Dental College Islamabad 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-i-Azam University Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-6825","authenticated-orcid":false,"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases Taibah University Medina Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,6,1]]},"reference":[{"key":"2023022412434759200_","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1001\/archderm.1970.04000060041010","article-title":"Congenital hypertrichosis lanuginosa","volume":"101","author":"Beighton","year":"1970","journal-title":"Arch Dermatol"},{"key":"2023022412434759200_","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1067\/mjd.2003.100","article-title":"Hypertrichosis","volume":"48","author":"Wendelin","year":"2003","journal-title":"J Am Acad Dermatol"},{"key":"2023022412434759200_","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1001\/archderm.1976.01630340060017","article-title":"Acquired hypertrichosis lanuginosa. 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