{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:10:23Z","timestamp":1792098623877,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Shandong Provincial Natural Science Foundation of China","award":["ZR2019PH072"],"award-info":[{"award-number":["ZR2019PH072"]}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC1000306"],"award-info":[{"award-number":["2016YFC1000306"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI including <jats:italic>PNPLA1<\/jats:italic> which can cause ARCI type 10. The objectives of this study are to describe clinical features of three ARCI patients from two Chinese unrelated families and to identify the underlying causative mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic DNA was extracted from peripheral venous blood obtained from the two Chinese ARCI families in Shandong province. Subsequently, targeted regions sequencing (TRS) followed by Sanger sequencing was conducted to identify and validate the likely pathogenic mutations of the ARCI families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic analyses revealed four novel <jats:italic>PNPLA1<\/jats:italic> variants that are predicted to be probably to lead to ARCI in three patients of two families. Patient 1 in one family was in compound heterozygous status for c.604delC\/p.Arg202Glyfs*27 and c.820dupC\/p.Arg274Profs*15, whereas c.738_742delinsCCCACAGATCCTGC\/ p.Gly247_Tyr248delinsProGlnIleLeuHis, and c.816dupC\/p.Arg274Profs*15 were found in patient 2 and 3 of the other family. In addition, these variants cosegregate in the two pedigrees and are all within highly conserved regions of the PNPLA1 protein, which indicate that the four mutations are likely pathogenic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings not only broaden the mutational spectrum of PNPLA1, but also contribute to establishing genotype\u2013phenotype correlations for different forms of ARCI.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1076","type":"journal-article","created":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T09:30:21Z","timestamp":1576229421000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Targeted regions sequencing identified four novel <i>PNPLA1<\/i> mutations in two Chinese families with autosomal recessive congenital ichthyosis"],"prefix":"10.1002","volume":"8","author":[{"given":"Liangshan","family":"Li","sequence":"first","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University Qingdao China"},{"name":"Prenatal Diagnosis Center The Affiliated Hospital of Qingdao University Qingdao China"},{"name":"Department of Clinical Laboratory Medical College of Qingdao University Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenmiao","family":"Liu","sequence":"additional","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University Qingdao China"},{"name":"Prenatal Diagnosis Center The Affiliated Hospital of Qingdao University Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinglei","family":"Xu","sequence":"additional","affiliation":[{"name":"Medical Genetic Department The Affiliated Hospital of Qingdao University Qingdao China"},{"name":"Prenatal Diagnosis Center The 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