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dc.contributor.authorTurnpenny, Peter
dc.date.accessioned2020-09-08T14:29:16Z
dc.date.available2020-09-08T14:29:16Z
dc.date.issued2020-06
dc.identifier.citationMelis D et al. Primrose syndrome: Characterization of the phenotype in 42 patients. Clin Genet. 2020;97(6):890-901. doi:10.1111/cge.13749en_US
dc.identifier.pmid32266967
dc.identifier.doi10.1111/cge.13749
dc.identifier.urihttps://rde.dspace-express.com/handle/11287/621420
dc.description.abstractPrimrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer.en_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.urlhttps://doi.org/10.1111/cge.13749en_US
dc.rights© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.en_US
dc.rightsCC0 1.0 Universal*
dc.rights.urihttp://creativecommons.org/publicdomain/zero/1.0/*
dc.subjectZBTB20en_US
dc.subjectPrimrose syndromeen_US
dc.subjectalpha-fetoproteinen_US
dc.subjectectopic calcificationsen_US
dc.subjectovergrowthen_US
dc.subjectClinical Geneticsen_US
dc.titlePrimrose syndrome: Characterization of the phenotype in 42 patientsen_US
dc.typeJournal Articleen_US
dc.identifier.journalClinical Geneticsen_US
dc.identifier.pmcidPMC7384157
dc.description.noteThis article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.en_US
dc.type.versionPublisheden_US
dc.description.admin-notepublished version, accepted version (12 month embargo) submitted versionen_US


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© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.

This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
Except where otherwise noted, this item's license is described as © 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.