{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T07:36:50Z","timestamp":1770536210244,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,1,29]],"date-time":"2018-01-29T00:00:00Z","timestamp":1517184000000},"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":["Int J Dermatology"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Harlequin ichthyosis (<jats:styled-content style=\"fixed-case\">HI<\/jats:styled-content>) is a severe genetic disorder caused by the mutation in the <jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12<\/jats:italic> gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated with congenital Ichthyosis by Next Generation sequencing. The variant relevant to the clinical indications was identified using Picard and <jats:styled-content style=\"fixed-case\">GATK<\/jats:styled-content> version 3.6. Variant's pathogenicity was predicted by \u201c<jats:italic>in silico<\/jats:italic>\u201d tools like Mutation Taster 2, Mutation Assessor and <jats:styled-content style=\"fixed-case\">LRT<\/jats:styled-content>. Bidirectional Sanger sequencing further validated the same variant detected in the proband and confirmed in the parental blood and <jats:styled-content style=\"fixed-case\">CVS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A homozygous 5\u2032 splice site variation that affects the position at 4 nucleotides downstream to the donor proximal splice site of intron 40 (c.5939+4A&gt;G; <jats:styled-content style=\"fixed-case\">ENST<\/jats:styled-content>00000272895) of the <jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>12<\/jats:italic> gene was detected in the proband, and the parents were heterozygous for the same variant. This led to the confirmation of diagnosis of Harlequin ichthyosis in the proband. \u201c<jats:italic>In silico<\/jats:italic>\u201d prediction of the variant was found to be damaging by MutationTaster2. The <jats:styled-content style=\"fixed-case\">CVS<\/jats:styled-content> sample during subsequent pregnancy was confirmed to be heterozygous for the same variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The novel intronic mutation found in the proband confirmed the clinical diagnosis as a severe type of <jats:styled-content style=\"fixed-case\">HI<\/jats:styled-content> and has helped the family in providing precise genetic counseling for further prevention of the disease and carrier screening of other family members.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijd.13923","type":"journal-article","created":{"date-parts":[[2018,1,29]],"date-time":"2018-01-29T21:42:34Z","timestamp":1517262154000},"page":"428-433","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Harlequin ichthyosis due to novel splice site mutation in the <i><scp>ABCA<\/scp>12<\/i> gene: postnatal to prenatal diagnosis"],"prefix":"10.1111","volume":"57","author":[{"given":"Jayesh J.","family":"Sheth","sequence":"first","affiliation":[{"name":"FRIGE's Institute of Human Genetics FRIGE House Ahmedabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riddhi","family":"Bhavsar","sequence":"additional","affiliation":[{"name":"FRIGE's Institute of Human Genetics FRIGE House Ahmedabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhairya","family":"Patel","sequence":"additional","affiliation":[{"name":"FRIGE's Institute of Human Genetics FRIGE House Ahmedabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aishwarya","family":"Joshi","sequence":"additional","affiliation":[{"name":"FRIGE's Institute of Human Genetics FRIGE House Ahmedabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frenny J.","family":"Sheth","sequence":"additional","affiliation":[{"name":"FRIGE's Institute of Human Genetics FRIGE House 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