{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:52:22Z","timestamp":1787014342442,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T00:00:00Z","timestamp":1676419200000},"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","award":["20\u2010 8942"],"award-info":[{"award-number":["20\u2010 8942"]}],"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":[[2023,5]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Congenital ichthyosis is a diverse group of keratinization disorders associated with generalized scaling of skin of varying severity. The non\u2010syndromic forms of congenital ichthyosis are further grouped into common ichthyosis (ichthyosis vulgaris and X\u2010linked ichthyosis), autosomal recessive congenital ichthyosis, and keratopathic ichthyosis.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To identify sequence variants involved in different forms of hereditary ichthyoses.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We studied eight families with different types of ichthyosis including four families with autosomal recessive congenital ichthyosis and four families with common ichthyosis. Whole exome sequencing and PCR based genotyping was carried out to find out the molecular basis of disease.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In one family, a novel duplication sequence variant NM_002016.2:c.2767dupT; NP_002007.1:p.Ser923PhefsTer2 was identified in\n FLG<\/jats:italic>\n gene; in four families a previously reported nonsense sequence variant NM_000359.3:c.232C>T; NP_002007.1:p.Arg78Ter was identified in\n TGM1<\/jats:italic>\n gene, while, in three families of X\u2010linked recessive ichthyosis, the whole\n STS<\/jats:italic>\n gene (NM_001320752.2; NP_001307681.2) regions were deleted.\n <\/jats:p>\n <\/jats:sec>\n \n Study limitation<\/jats:title>\n Gene expression studies have not been performed that would have strengthened the findings of computational analysis.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This study highlights the significance of the c.232C>T variant in the\n TGM1<\/jats:italic>\n gene as a possible founder mutation, complete STS gene deletion as reported previously in Pakistani population, while novel sequence variant in the\n FLG<\/jats:italic>\n gene expands the spectrum of variations in this gene. These findings may be used for genetic counseling of the studied families.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/ijd.16614","type":"journal-article","created":{"date-parts":[[2023,2,15]],"date-time":"2023-02-15T06:53:48Z","timestamp":1676444028000},"page":"672-680","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic mutations in\n FLG<\/i>\n ,\n TGM1<\/i>\n , and\n STS<\/i>\n genes segregated with different types of ichthyoses in eight families of Pakistani origin"],"prefix":"10.1111","volume":"62","author":[{"given":"Niamatullah","family":"Khan","sequence":"first","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9464-9262","authenticated-orcid":false,"given":"Khadim","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Biotechnology COMSATS University Islamabad Abbottabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fozia","family":"Fozia","sequence":"additional","affiliation":[{"name":"Department of Biochemistry KMU Institute of Medical Sciences (KIMS) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5436-8917","authenticated-orcid":false,"given":"Sher A.","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazif","family":"Muhammad","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdul","family":"Nasir","sequence":"additional","affiliation":[{"name":"Hospital of Zhengzhou University Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ijaz","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Chemistry Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zia U.","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abid","family":"Jan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor","family":"Muhammad","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science & Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2012.11.001"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40257\u2010017\u20100313\u2010x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000516943"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.13284"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2017.3210"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.13057"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555\u20102418"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12219"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1743"},{"issue":"4","key":"e_1_2_8_12_1","first-page":"349","article-title":"Ichthyoses: differential diagnosis and molecular genetics","volume":"16","author":"Oji V","year":"2006","journal-title":"Eur J Dermatol"},{"issue":"3","key":"e_1_2_8_13_1","first-page":"483","article-title":"Identification of point mutations in the steroid sulfatase gene of three patients with X\u2010linked ichthyosis","volume":"50","author":"Basler E","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.33.20756"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/pdb.prot4455"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.13778"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20101\u20100716\u20100892\u20100_14"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.5560020916"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12030373"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.393"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.adengl.2011.11.021"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2020"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.2010\/jcpsp.644648"},{"issue":"6","key":"e_1_2_8_25_1","first-page":"382","article-title":"Detection of filaggrin gene mutation (2282del4) in Pakistani ichthyosis vulgaris families","volume":"21","author":"Naz N","year":"2011","journal-title":"J Coll Physicians Surg Pak"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12950"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.539"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12366"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010020\u20100964\u2010y"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.600"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.09.007"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.11.015"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1047474"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.16614","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ijd.16614","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.16614","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T00:10:57Z","timestamp":1692663057000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.16614"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,15]]},"references-count":32,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1111\/ijd.16614"],"URL":"https:\/\/doi.org\/10.1111\/ijd.16614","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,15]]},"assertion":[{"value":"2022-09-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}