{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:50:43Z","timestamp":1785689443023,"version":"3.56.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T00:00:00Z","timestamp":1649721600000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal recessive congenital ichthyosis (ARCI) refers to non\u2010syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The aim of this study was to characterize the genotype of ARCI among patients from the Indian subcontinent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010eight patients clinically diagnosed as ARCI were recruited prospectively from September 2017 to June 2019 (21\u00a0months). DNA was extracted from peripheral blood and analyzed for the 13 described ARCI genes\u2014<jats:italic>TGM1<\/jats:italic>, <jats:italic>ABCA12<\/jats:italic>, <jats:italic>ALOX12B<\/jats:italic>, <jats:italic>ALOXE3<\/jats:italic>, <jats:italic>CERS3<\/jats:italic>, <jats:italic>CYP4F22<\/jats:italic>, <jats:italic>LIPN<\/jats:italic>, <jats:italic>NIPAL4<\/jats:italic>, <jats:italic>PNPLA1<\/jats:italic>, <jats:italic>SDR9C7<\/jats:italic>, <jats:italic>SLC27A4<\/jats:italic>, <jats:italic>SULT2B1<\/jats:italic>, and <jats:italic>CASP14<\/jats:italic> by next\u2010generation sequencing using an in\u2010house panel. The variants identified were confirmed by Sanger sequencing and compared with known pathogenic variants to establish pathogenicity. We also attempted to correlate the phenotype with the genotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among the 28 patients recruited (M\u00a0=\u00a017, F\u00a0=\u00a011), we identified phenotypes of congenital ichthyosiform erythroderma in 12 (42.9%), 8 with lamellar ichthyosis (28.6%), 5 with intermediate phenotype (17.9%), and 3 with bathing suit ichthyosis (10.7%). Pathogenic and likely pathogenic variants were identified in 22 (78.6%) patients, involving 7 out of the 13 known ARCI genes while 6 (21.4%) did not have pathogenic variants. These included <jats:italic>TGM1<\/jats:italic> mutation in 6 (21.4%), <jats:italic>ALOX12B<\/jats:italic> and <jats:italic>ALOXE3<\/jats:italic> in 4 (14.3%) each, <jats:italic>NIPAL4<\/jats:italic> and <jats:italic>PNPLA1<\/jats:italic> in 3 (10.7%) each, and <jats:italic>ABCA12<\/jats:italic> and <jats:italic>CERS3<\/jats:italic> in 1 (3.6%) patient each. Previously unknown pathogenic variants were found in 59.1 % of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our patients with ARCI were found to have genotypes as previously described in other populations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.14944","type":"journal-article","created":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T13:43:19Z","timestamp":1649770999000},"page":"420-424","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3078-1146","authenticated-orcid":false,"given":"Minu Jose","family":"Chiramel","sequence":"first","affiliation":[{"name":"Department of Dermatology Christian Medical College and Hospital  Vellore Tamil Nadu 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