{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:09:27Z","timestamp":1772168967435,"version":"3.50.1"},"reference-count":16,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2015,7,31]],"date-time":"2015-07-31T00:00:00Z","timestamp":1438300800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene (\n                    <ns4:italic>TGM1<\/ns4:italic>\n                    ), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing revealed a homozygous p.Gly218Ser variation in\n                    <ns4:italic>TGM1<\/ns4:italic>\n                    ; a variation reported earlier in an isolated Finnish population in association with autosomal recessive non-syndromic ichthyosis. This concurrence of a potentially benign 22q12+ duplication and LI, both rare individually, is reported here likely for the first time.\n                  <\/ns4:p>","DOI":"10.12688\/f1000research.6779.1","type":"journal-article","created":{"date-parts":[[2015,7,31]],"date-time":"2015-07-31T10:50:07Z","timestamp":1438339807000},"page":"446","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis."],"prefix":"10.12688","volume":"4","author":[{"given":"Aayush","family":"Gupta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yugal","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirti","family":"Deo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shamsudheen","family":"Vellarikkal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rijith","family":"Jayarajan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vishal","family":"Dixit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankit","family":"Verma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinod","family":"Scaria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sridhar","family":"Sivasubbu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2015,7,31]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"607-641","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 Sor\u00e8ze 2009.","volume":"63","author":"V Oji","year":"2010","journal-title":"J Am Acad Dermatol."},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"537-547","DOI":"10.1002\/humu.20952","article-title":"Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.","volume":"30","author":"M Herman","year":"2009","journal-title":"Hum Mutat."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"904-909","DOI":"10.1111\/j.1365-2230.2009.03288.x","article-title":"New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.","volume":"34","author":"X Cao","year":"2009","journal-title":"Clin Exp Dermatol."},{"key":"ref-4","doi-asserted-by":"publisher","first-page":"235-240","DOI":"10.1046\/j.1365-2230.2003.01295.x","article-title":"The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.","volume":"28","author":"M Akiyama","year":"2003","journal-title":"Clin Exp Dermatol."},{"key":"ref-5","doi-asserted-by":"publisher","first-page":"94-100","DOI":"10.1111\/bjd.13190","article-title":"Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.","volume":"172","author":"T Takeichi","year":"2015","journal-title":"Br J Dermatol."},{"key":"ref-6","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2014.7","article-title":"Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from Western India.","volume":"1","author":"S Vellarikkal","year":"2014","journal-title":"Human Genome Variation."},{"key":"ref-7","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.12983","article-title":"Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis.","author":"A Gupta","year":"2015","journal-title":"J Eur Acad Dermatol Venereol."},{"key":"ref-8","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells.","volume":"16","author":"S Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"ref-9","doi-asserted-by":"publisher","first-page":"491-8","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data.","volume":"43","author":"M DePristo","year":"2011","journal-title":"Nat Genet."},{"key":"ref-10","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.","volume":"38","author":"K Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"ref-11","doi-asserted-by":"publisher","first-page":"529-38","DOI":"10.1086\/515498","article-title":"Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.","volume":"61","author":"E Laiho","year":"1997","journal-title":"Am J Hum Genet."},{"key":"ref-12","doi-asserted-by":"publisher","first-page":"607-41","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 Sor\u00e8ze 2009.","volume":"63","author":"V Oji","year":"2010","journal-title":"J Am Acad Dermatol."},{"key":"ref-13","doi-asserted-by":"publisher","first-page":"1319-21","DOI":"10.1038\/jid.2009.57","article-title":"Autosomal recessive congenital ichthyosis.","volume":"129","author":"J Fischer","year":"2009","journal-title":"J Invest Dermatol."},{"key":"ref-14","first-page":"273-82","article-title":"Phenotypic variability of the cat eye syndrome. Case report and review of the literature.","volume":"12","author":"P Rosias","year":"2001","journal-title":"Genet Couns."},{"key":"ref-15","doi-asserted-by":"publisher","first-page":"W452-7","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins.","volume":"40","author":"N Sim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"ref-16","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2.","author":"I Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet."}],"container-title":["F1000Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/f1000research.com\/articles\/4-446\/v1\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/4-446\/v1\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/4-446\/v1\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,5]],"date-time":"2018-12-05T07:20:59Z","timestamp":1543994459000},"score":1,"resource":{"primary":{"URL":"https:\/\/f1000research.com\/articles\/4-446\/v1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,31]]},"references-count":16,"URL":"https:\/\/doi.org\/10.12688\/f1000research.6779.1","relation":{"has-review":[{"id-type":"doi","id":"10.5256\/f1000research.7283.r10062","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.7283.r9750","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.7283.r9750","asserted-by":"object"},{"id-type":"doi","id":"10.5256\/f1000research.7283.r10062","asserted-by":"object"}]},"ISSN":["2046-1402"],"issn-type":[{"value":"2046-1402","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,31]]},"assertion":[{"value":"Indexed","URL":"https:\/\/f1000research.com\/articles\/4-446\/v1#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.7283.r9750, Mohamed Badawy Hassan Tawfik Abdel-Naser, Faculty of Medicine, Ain Shams University , Cairo, Egypt, 10 Aug 2015, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/4-446\/v1#referee-response-9750","order":0,"name":"referee-response-9750","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.7283.r10062, Regina F\u00f6lster-Holst, Department of Dermatology, Allergology and Venerology, University of Kiel, Kiel, Germany, 24 Aug 2015, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/4-446\/v1#referee-response-10062","order":1,"name":"referee-response-10062","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"Authors acknowledge funding from the Council of Scientific and Industrial Research (CSIR), India through Grant No. BSC0122 (CARDIOMED). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}