{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T22:08:14Z","timestamp":1768514894706,"version":"3.49.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T00:00:00Z","timestamp":1714780800000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81788101"],"award-info":[{"award-number":["81788101"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703900"],"award-info":[{"award-number":["2022YFC2703900"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703903"],"award-info":[{"award-number":["2022YFC2703903"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non\u2010syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disorders. ARCI present with different phenotypes and <jats:italic>ABCA12<\/jats:italic> pathogenic variants have been shown to cause complex ARCI phenotypes, including harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A sporadic male patient, clinically diagnosed with CIE, was enrolled in this study. Exome sequencing was combined with Sanger sequencing to confirm the diagnosis and identify the pathogenic variants. <jats:italic>In silico<\/jats:italic> predictions were made using multiple software programs, and the identified variants were interpreted using the ACMG guidelines. A review of all literature reported <jats:italic>ABCA12<\/jats:italic> variants was performed to explore genotype\u2013phenotype correlations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Compound heterozygous <jats:italic>ABCA12<\/jats:italic> variants [c.5381+1G&gt;A and c.5485G&gt;C (p.Asp1829His)] (NM_173076) were identified. The two variants were not detected in the public database. c.5381+1G&gt;A is predicted to affect <jats:italic>ABCA12<\/jats:italic> mRNA splicing and Asp1829 is highly conserved among various species. <jats:italic>In silico<\/jats:italic> analysis suggested that these two variants were responsible for the phenotype of the patient. Genotype\u2013phenotype correlation analysis showed that biallelic truncation variants and\/or exon\/amino acid deletions in <jats:italic>ABCA12<\/jats:italic> are the most common causes of HI. Biallelic missense variants are most common in LI and CIE.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The compound heterozygous <jats:italic>ABCA12<\/jats:italic> variants caused the CIE phenotype observed in the patient. The spectrum of <jats:italic>ABCA12<\/jats:italic> pathogenic variants were broaden. Genotype\u2013phenotype correlation analysis provided detailed evidence which can be used in future prenatal diagnosis and can inform the need for genetic counselling for patients with <jats:italic>ABCA12<\/jats:italic>\u2010related ARCIs.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2431","type":"journal-article","created":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T07:09:37Z","timestamp":1714806577000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Compound heterozygous <i>ABCA12<\/i> variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype\u2013phenotype correlations and literature review"],"prefix":"10.1002","volume":"12","author":[{"given":"Jia\u2010Wei","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kexin","family":"Guo","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College  Beijing China"},{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Zhang","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongrong","family":"Wang","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong\u2010Lai","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,4]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12383"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21326"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI24834"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000069811"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23052506"},{"issue":"1","key":"e_1_2_10_7_1","first-page":"40","article-title":"Paraneoplastic Addisonian pigmentation and acquired ichthyosis as presenting features of multiple myeloma","volume":"21","author":"Dar N. 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