{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:46:13Z","timestamp":1791852373189,"version":"4.3.4"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,3,8]],"date-time":"2022-03-08T00:00:00Z","timestamp":1646697600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"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:p>Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to <jats:italic>PIGL<\/jats:italic> gene mutations. Here, we report a patient who showed an initial delay in psychomotor development and skin abnormalities consistent with CHIME syndrome but with atypical clinical features and laboratory findings. In line with our clinical suspicion, the c.500T&gt;C, p.(Leu167Pro) variant (found in all the previously described cases of CHIME syndrome) was found on the paternal allele. A novel \u201clikely pathogenic\u201d <jats:italic>PIGL<\/jats:italic> missense variant (c.154G&gt;A, p.(Asp52Asn)) was detected on the maternal allele. This case provides new insights into the clinical spectrum of CHIME syndrome and highlights the potential for phenotypic\/genotypic variations.<\/jats:p>","DOI":"10.1111\/pde.14969","type":"journal-article","created":{"date-parts":[[2022,3,8]],"date-time":"2022-03-08T11:14:38Z","timestamp":1646738078000},"page":"434-437","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) <i>PIGL<\/i> pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3836-4374","authenticated-orcid":false,"given":"Marion","family":"Rolland","sequence":"first","affiliation":[{"name":"Department of Dermatology CHU Rennes  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e8le","family":"Dubourg","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Genomics CHU Rennes  Rennes France"},{"name":"UMR 6290 IGDR CNRS University of Rennes  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Auriane","family":"Cospain","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Genomics CHU Rennes  Rennes France"},{"name":"Department of Medical Genetics Referral Centre for Developmental anomalies and malformation syndromes CHU Rennes  Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Droitcourt","sequence":"additional","affiliation":[{"name":"Department of Dermatology CHU Rennes  Rennes France"},{"name":"UMR_S 1085 Irset (Institut de recherche en sant\u00e9, environnement et travail) EHESP Inserm University of Rennes  Rennes 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