{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:10:22Z","timestamp":1792098622311,"version":"4.4.0"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,16]],"date-time":"2019-01-16T00:00:00Z","timestamp":1547596800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2019,1,16]],"date-time":"2019-01-16T00:00:00Z","timestamp":1547596800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2019,3]]},"DOI":"10.1002\/humu.23695","type":"journal-article","created":{"date-parts":[[2018,12,22]],"date-time":"2018-12-22T16:43:02Z","timestamp":1545496982000},"page":"288-298","source":"Crossref","is-referenced-by-count":47,"title":["Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families"],"prefix":"10.1155","volume":"40","author":[{"given":"Leila","family":"Youssefian","sequence":"first","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College at Thomas Jefferson University; Philadelphia PA USA"},{"name":"Department of Medical Genetics; School of Medicine; Tehran University of Medical Sciences; Tehran Iran"},{"name":"Genetics, Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College at Thomas Jefferson University; Philadelphia PA USA"},{"name":"Biotechnology Research Center; Department of Molecular Medicine; Pasteur Institute of Iran; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amir Hossein","family":"Saeidian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College at Thomas Jefferson University; Philadelphia PA USA"},{"name":"Genetics, Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Touati","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College at Thomas Jefferson University; Philadelphia PA USA"},{"name":"Drexel University College of Medicine; Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Sotoudeh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children's Medical Center; Pediatric Center of Excellence; Tehran University of Medical Sciences; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamidreza","family":"Mahmoudi","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Razi Hospital; Tehran University of Medical Sciences; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parvin","family":"Mansouri","sequence":"additional","affiliation":[{"name":"Skin and Stem Cell Research Center; Tehran University of Medical Sciences; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Daneshpazhooh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Razi Hospital; Tehran University of Medical Sciences; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nessa","family":"Aghazadeh","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Razi Hospital; Tehran University of Medical Sciences; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kambiz Kamyab","family":"Hesari","sequence":"additional","affiliation":[{"name":"Pathology Department, Razi Hospital; Tehran University of Medical Sciences; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Basiri","sequence":"additional","affiliation":[{"name":"School of Medicine; Shahid Sadoughi University of Medical Sciences and Health Sciences; Yazd Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Londin","sequence":"additional","affiliation":[{"name":"Computational Medicine Center; Sidney Kimmel Cancer Center; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaurav","family":"Kumar","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Cancer Center; Department of Cancer Biology; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[{"name":"Biotechnology Research Center; Department of Molecular Medicine; Pasteur Institute of Iran; Tehran Iran"},{"name":"Kawsar Human Genetics Research Center; Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Fortina","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Cancer Center; Department of Cancer Biology; Thomas Jefferson University; Philadelphia PA USA"},{"name":"Department of Molecular Medicine; Sapienza University; Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College at Thomas Jefferson University; Philadelphia PA USA"},{"name":"Jefferson Institute of Molecular Medicine; Thomas Jefferson University; Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,1,16]]},"reference":[{"issue":"14","key":"10.1002\/humu.23695-BIB0001|humu23695-cit-0001","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1056\/NEJMra1711801","article-title":"Next-generation sequencing to diagnose suspected genetic disorders","volume":"379","author":"Adams","year":"2018","journal-title":"New England Journal of Medicine"},{"key":"10.1002\/humu.23695-BIB0002|humu23695-cit-0002","first-page":"1","volume-title":"Emery and Rimoin's Principle and Practice of Medical Genetics","author":"Baden","year":"2013"},{"issue":"10","key":"10.1002\/humu.23695-BIB0003|humu23695-cit-0003","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1001\/archdermatol.2012.1947","article-title":"Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: Phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis","volume":"148","author":"Bourrat","year":"2012","journal-title":"Archives of Dermatology"},{"issue":"1","key":"10.1002\/humu.23695-BIB0004|humu23695-cit-0004","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1111\/bjd.15570","article-title":"Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation","volume":"177","author":"Boyden","year":"2017","journal-title":"British Journal of Dermatology"},{"issue":"2","key":"10.1002\/humu.23695-BIB0005|humu23695-cit-0005","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/bjd.13918","article-title":"Autosomal recessive congenital ichthyoses in the Czech Republic","volume":"174","author":"Bu\u010dkov\u00e1","year":"2016","journal-title":"British Journal of Dermatology"},{"issue":"386","key":"10.1002\/humu.23695-BIB0006|humu23695-cit-0006","doi-asserted-by":"crossref","first-page":"Eaal5209","DOI":"10.1126\/scitranslmed.aal5209","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","volume":"9","author":"Cummings","year":"2017","journal-title":"Science Translational Medicine"},{"key":"10.1002\/humu.23695-BIB0007|humu23695-cit-0007","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s13023-016-0384-4","article-title":"Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis","volume":"11","author":"Diociaiuti","year":"2016","journal-title":"Orphanet Journal of Rare Diseases"},{"key":"10.1002\/humu.23695-BIB0008|humu23695-cit-0008","doi-asserted-by":"crossref","first-page":"803","DOI":"10.2340\/00015555-2957","article-title":"Ichthyosis prematurity syndrome due to a novel SLC27A4 homozygous mutation in an Italian patient","volume":"98","author":"Diociaiuti","year":"2018","journal-title":"Acta Dermato-Venereologica"},{"key":"10.1002\/humu.23695-BIB0009|humu23695-cit-0009","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-9-1","article-title":"Prevalence of inherited ichthyosis in France: A study using capture-recapture method","volume":"9","author":"Dreyfus","year":"2014","journal-title":"Orphanet Journal Rare Diseases"},{"issue":"6","key":"10.1002\/humu.23695-BIB0010|humu23695-cit-0010","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1016\/j.ajhg.2017.05.007","article-title":"Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans","volume":"100","author":"Heinz","year":"2017","journal-title":"American Journal of Human Genetics"},{"issue":"8","key":"10.1002\/humu.23695-BIB0011|humu23695-cit-0011","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1111\/ced.12148","article-title":"Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population","volume":"38","author":"Israeli","year":"2013","journal-title":"Clinical and Experimental Dermatology"},{"issue":"4","key":"10.1002\/humu.23695-BIB0012|humu23695-cit-0012","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1111\/pde.12320","article-title":"Ichthyosis prematurity syndrome: A case report and review of known mutations","volume":"31","author":"Kiely","year":"2014","journal-title":"Pediatric Dermatology"},{"issue":"1","key":"10.1002\/humu.23695-BIB0013|humu23695-cit-0013","doi-asserted-by":"crossref","first-page":"102","DOI":"10.2340\/00015555-2510","article-title":"Whole-exome-sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis","volume":"97","author":"Kirchmeier","year":"2017","journal-title":"Acta Dermato-Venereologica"},{"key":"10.1002\/humu.23695-BIB0014|humu23695-cit-0014","doi-asserted-by":"crossref","first-page":"15824","DOI":"10.1038\/ncomms15824","article-title":"Genetic diagnosis of Mendelian disorders via RNA sequencing","volume":"8","author":"Kremer","year":"2017","journal-title":"Nature Communications"},{"issue":"6822","key":"10.1002\/humu.23695-BIB0015|humu23695-cit-0015","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1038\/35057062","article-title":"Initial sequencing and analysis of the human genome","volume":"409","author":"Lander","year":"2001","journal-title":"Nature"},{"issue":"18","key":"10.1002\/humu.23695-BIB0016|humu23695-cit-0016","doi-asserted-by":"crossref","first-page":"1880","DOI":"10.1001\/jama.2014.14604","article-title":"Clinical exome sequencing for genetic identification of rare Mendelian disorders","volume":"312","author":"Lee","year":"2014","journal-title":"JAMA"},{"issue":"6","key":"10.1002\/humu.23695-BIB0017|humu23695-cit-0017","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1001\/jamadermatol.2017.0202","article-title":"Expanding the genotypic spectrum of bathing suit ichthyosis","volume":"153","author":"Marukian","year":"2017","journal-title":"JAMA Dermatology"},{"key":"10.1002\/humu.23695-BIB0018|humu23695-cit-0018","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1016\/j.jid.2018.04.032","article-title":"Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A","volume":"138","author":"Mohamad","year":"2018","journal-title":"Journal of Investigative Dermatology"},{"issue":"21","key":"10.1002\/humu.23695-BIB0019|humu23695-cit-0019","doi-asserted-by":"crossref","first-page":"3083","DOI":"10.1093\/hmg\/ddl249","article-title":"Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: Evidence for a temperature-sensitive phenotype","volume":"15","author":"Oji","year":"2006","journal-title":"Human Molecular Genetics"},{"issue":"4","key":"10.1002\/humu.23695-BIB0020|humu23695-cit-0020","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.jaad.2009.11.020","article-title":"Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009","volume":"63","author":"Oji","year":"2010","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"7","key":"10.1002\/humu.23695-BIB0021|humu23695-cit-0021","doi-asserted-by":"crossref","first-page":"932","DOI":"10.2340\/00015555-2418","article-title":"Spectrum of autosomal recessive congenital ichthyosis in Scandinavia: Clinical characteristics and novel and recurrent mutations in 132 patients","volume":"96","author":"Pigg","year":"2016","journal-title":"Acta Dermato-Venereologica"},{"key":"10.1002\/humu.23695-BIB0022|humu23695-cit-0022","first-page":"1993","volume-title":"GeneReviews","author":"Richard","year":"2014"},{"issue":"5","key":"10.1002\/humu.23695-BIB0023|humu23695-cit-0023","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genetics in Medicine"},{"issue":"2","key":"10.1002\/humu.23695-BIB0024|humu23695-cit-0024","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1080\/03014460310001652211","article-title":"Consanguineous marriage in Iran","volume":"31","author":"Saadat","year":"2004","journal-title":"Annals of Human Biology"},{"issue":"5","key":"10.1002\/humu.23695-BIB0025|humu23695-cit-0025","doi-asserted-by":"crossref","first-page":"e79","DOI":"10.1016\/j.jid.2016.02.818","article-title":"The molecular revolution in cutaneous biology: Era of next-generation sequencing","volume":"137","author":"Sarig","year":"2017","journal-title":"Journal of Investigative Dermatology"},{"issue":"20","key":"10.1002\/humu.23695-BIB0026|humu23695-cit-0026","first-page":"4484","article-title":"Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis","volume":"25","author":"Shigehara","year":"2016","journal-title":"Human Molecular Genetics"},{"issue":"6","key":"10.1002\/humu.23695-BIB0027|humu23695-cit-0027","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1111\/jdv.14870","article-title":"Whole-exome sequencing for diagnosis of hereditary ichthyosis","volume":"32","author":"Sitek","year":"2018","journal-title":"Journal of the European Academy of Dermatology and Venereology"},{"issue":"5","key":"10.1002\/humu.23695-BIB0028|humu23695-cit-0028","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1111\/bjd.13473","article-title":"Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family","volume":"172","author":"Takeichi","year":"2015","journal-title":"British Journal of Dermatology"},{"issue":"1","key":"10.1002\/humu.23695-BIB0029|humu23695-cit-0029","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.jpeds.2010.01.031","article-title":"Self-healing collodion baby","volume":"157","author":"Theiler","year":"2010","journal-title":"Journal of Pediatrics"},{"key":"10.1002\/humu.23695-BIB0030|humu23695-cit-0030","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1016\/j.jid.2018.06.170","article-title":"Research techniques made simple: Genome-wide homozygosity\/autozygosity mapping is a powerful tool to identify candidate genes in autosomal recessive genetic diseases","volume":"138","author":"Vahidnezhad","year":"2018","journal-title":"Journal of Investigative Dermatology"},{"key":"10.1002\/humu.23695-BIB0041|humu23695-cit-0041","doi-asserted-by":"crossref","DOI":"10.1016\/j.jid.2018.11.011","article-title":"A CIB1 splice-site founder mutation in families with typical epidermodysplasia verruciformis","author":"Vahidnezhad","year":"2019","journal-title":"Journal of Investigative Dermatology"},{"key":"10.1002\/humu.23695-BIB0031|humu23695-cit-0031","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.matbio.2017.11.003","article-title":"Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy","volume":"66","author":"Vahidnezhad","year":"2018","journal-title":"Matrix Biology"},{"key":"10.1002\/humu.23695-BIB0032|humu23695-cit-0032","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1002\/humu.23592","article-title":"Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa","volume":"39","author":"Vahidnezhad","year":"2018","journal-title":"Human Mutation"},{"key":"10.1002\/humu.23695-BIB0033|humu23695-cit-0033","first-page":"121","article-title":"Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa","volume":"138","author":"Vahidnezhad","year":"2018","journal-title":"Exp Derm"},{"issue":"3","key":"10.1002\/humu.23695-BIB0034|humu23695-cit-0034","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/j.jid.2016.11.012","article-title":"Gene-targeted next generation sequencing identifies PNPLA1 mutations in patients with a phenotypic spectrum of autosomal recessive congenital ichthyosis: The impact of consanguinity","volume":"137","author":"Vahidnezhad","year":"2017","journal-title":"Journal of Investigative Dermatology"},{"issue":"1","key":"10.1002\/humu.23695-BIB0035|humu23695-cit-0035","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s40257-017-0313-x","article-title":"Inherited nonsyndromic ichthyoses: An update on pathophysiology, diagnosis and treatment","volume":"19","author":"Vahlquist","year":"2018","journal-title":"American Journal of Clinical Dermatology"},{"issue":"3","key":"10.1002\/humu.23695-BIB0036|humu23695-cit-0036","doi-asserted-by":"crossref","first-page":"e219","DOI":"10.1111\/bjd.16053","article-title":"Erythrokeratoderma: A manifestation associated with multiple types of ichthyoses with different gene defects","volume":"178","author":"Youssefian","year":"2018","journal-title":"British Journal of Dermatology"},{"key":"10.1002\/humu.23695-BIB0037|humu23695-cit-0037","article-title":"A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma","author":"Youssefian","year":"2018","journal-title":"Human Mutation"},{"key":"10.1002\/humu.23695-BIB0038|humu23695-cit-0038","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1038\/ejhg.2017.137","article-title":"Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes","volume":"25","author":"Youssefian","year":"2017","journal-title":"European Journal of Human Genetics"},{"issue":"2","key":"10.1002\/humu.23695-BIB0039|humu23695-cit-0039","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/bjd.15308","article-title":"Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function","volume":"177","author":"Zimmer","year":"2017","journal-title":"British Journal of Dermatology"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23695","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23695\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:57:20Z","timestamp":1672333040000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,16]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23695","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2019,1,16]]}}}