Primrose syndrome: Characterization of the phenotype in 42 patients.

Détails

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Etat: Public
Version: Final published version
Licence: CC BY-NC-ND 4.0
ID Serval
serval:BIB_2E4B9C181A07
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Primrose syndrome: Characterization of the phenotype in 42 patients.
Périodique
Clinical genetics
Auteur⸱e⸱s
Melis D., Carvalho D., Barbaro-Dieber T., Espay A.J., Gambello M.J., Gener B., Gerkes E., Hitzert M.M., Hove H.B., Jansen S., Jira P.E., Lachlan K., Menke L.A., Narayanan V., Ortiz D., Overwater E., Posmyk R., Ramsey K., Rossi A., Sandoval R.L., Stumpel C., Stuurman K.E., Cordeddu V., Turnpenny P., Strisciuglio P., Tartaglia M., Unger S., Waters T., Turnbull C., Hennekam R.C.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Statut éditorial
Publié
Date de publication
06/2020
Peer-reviewed
Oui
Volume
97
Numéro
6
Pages
890-901
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Primrose 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 We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients.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.
Mots-clé
ZBTB20, Primrose syndrome, alpha-fetoprotein, ectopic calcifications, overgrowth, ZBTB20
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/04/2020 21:14
Dernière modification de la notice
15/01/2021 7:08
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