Cargando…

Primrose syndrome: Characterization of the phenotype in 42 patients

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 het...

Descripción completa

Detalles Bibliográficos
Autores principales: Melis, Daniela, Carvalho, Daniel, Barbaro‐Dieber, Tina, Espay, Alberto J., Gambello, Michael J., Gener, Blanca, Gerkes, Erica, Hitzert, Marrit M., Hove, Hanne B., Jansen, Sandra, Jira, Petr E., Lachlan, Katherine, Menke, Leonie A., Narayanan, Vinodh, Ortiz, Damara, Overwater, Eline, Posmyk, Renata, Ramsey, Keri, Rossi, Alessandro, Sandoval, Renata Lazari, Stumpel, Constance, Stuurman, Kyra E., Cordeddu, Viviana, Turnpenny, Peter, Strisciuglio, Pietro, Tartaglia, Marco, Unger, Sheela, Waters, Todd, Turnbull, Clare, Hennekam, Raoul C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7384157/
https://www.ncbi.nlm.nih.gov/pubmed/32266967
http://dx.doi.org/10.1111/cge.13749
_version_ 1783563570083004416
author Melis, Daniela
Carvalho, Daniel
Barbaro‐Dieber, Tina
Espay, Alberto J.
Gambello, Michael J.
Gener, Blanca
Gerkes, Erica
Hitzert, Marrit M.
Hove, Hanne B.
Jansen, Sandra
Jira, Petr E.
Lachlan, Katherine
Menke, Leonie A.
Narayanan, Vinodh
Ortiz, Damara
Overwater, Eline
Posmyk, Renata
Ramsey, Keri
Rossi, Alessandro
Sandoval, Renata Lazari
Stumpel, Constance
Stuurman, Kyra E.
Cordeddu, Viviana
Turnpenny, Peter
Strisciuglio, Pietro
Tartaglia, Marco
Unger, Sheela
Waters, Todd
Turnbull, Clare
Hennekam, Raoul C.
author_facet Melis, Daniela
Carvalho, Daniel
Barbaro‐Dieber, Tina
Espay, Alberto J.
Gambello, Michael J.
Gener, Blanca
Gerkes, Erica
Hitzert, Marrit M.
Hove, Hanne B.
Jansen, Sandra
Jira, Petr E.
Lachlan, Katherine
Menke, Leonie A.
Narayanan, Vinodh
Ortiz, Damara
Overwater, Eline
Posmyk, Renata
Ramsey, Keri
Rossi, Alessandro
Sandoval, Renata Lazari
Stumpel, Constance
Stuurman, Kyra E.
Cordeddu, Viviana
Turnpenny, Peter
Strisciuglio, Pietro
Tartaglia, Marco
Unger, Sheela
Waters, Todd
Turnbull, Clare
Hennekam, Raoul C.
author_sort Melis, Daniela
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7384157
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Blackwell Publishing Ltd
record_format MEDLINE/PubMed
spelling pubmed-73841572020-07-28 Primrose syndrome: Characterization of the phenotype in 42 patients Melis, Daniela Carvalho, Daniel Barbaro‐Dieber, Tina Espay, Alberto J. Gambello, Michael J. Gener, Blanca Gerkes, Erica Hitzert, Marrit M. Hove, Hanne B. Jansen, Sandra Jira, Petr E. Lachlan, Katherine Menke, Leonie A. Narayanan, Vinodh Ortiz, Damara Overwater, Eline Posmyk, Renata Ramsey, Keri Rossi, Alessandro Sandoval, Renata Lazari Stumpel, Constance Stuurman, Kyra E. Cordeddu, Viviana Turnpenny, Peter Strisciuglio, Pietro Tartaglia, Marco Unger, Sheela Waters, Todd Turnbull, Clare Hennekam, Raoul C. Clin Genet Original Articles 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. Blackwell Publishing Ltd 2020-04-20 2020-06 /pmc/articles/PMC7384157/ /pubmed/32266967 http://dx.doi.org/10.1111/cge.13749 Text en © 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ 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.
spellingShingle Original Articles
Melis, Daniela
Carvalho, Daniel
Barbaro‐Dieber, Tina
Espay, Alberto J.
Gambello, Michael J.
Gener, Blanca
Gerkes, Erica
Hitzert, Marrit M.
Hove, Hanne B.
Jansen, Sandra
Jira, Petr E.
Lachlan, Katherine
Menke, Leonie A.
Narayanan, Vinodh
Ortiz, Damara
Overwater, Eline
Posmyk, Renata
Ramsey, Keri
Rossi, Alessandro
Sandoval, Renata Lazari
Stumpel, Constance
Stuurman, Kyra E.
Cordeddu, Viviana
Turnpenny, Peter
Strisciuglio, Pietro
Tartaglia, Marco
Unger, Sheela
Waters, Todd
Turnbull, Clare
Hennekam, Raoul C.
Primrose syndrome: Characterization of the phenotype in 42 patients
title Primrose syndrome: Characterization of the phenotype in 42 patients
title_full Primrose syndrome: Characterization of the phenotype in 42 patients
title_fullStr Primrose syndrome: Characterization of the phenotype in 42 patients
title_full_unstemmed Primrose syndrome: Characterization of the phenotype in 42 patients
title_short Primrose syndrome: Characterization of the phenotype in 42 patients
title_sort primrose syndrome: characterization of the phenotype in 42 patients
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7384157/
https://www.ncbi.nlm.nih.gov/pubmed/32266967
http://dx.doi.org/10.1111/cge.13749
work_keys_str_mv AT melisdaniela primrosesyndromecharacterizationofthephenotypein42patients
AT carvalhodaniel primrosesyndromecharacterizationofthephenotypein42patients
AT barbarodiebertina primrosesyndromecharacterizationofthephenotypein42patients
AT espayalbertoj primrosesyndromecharacterizationofthephenotypein42patients
AT gambellomichaelj primrosesyndromecharacterizationofthephenotypein42patients
AT generblanca primrosesyndromecharacterizationofthephenotypein42patients
AT gerkeserica primrosesyndromecharacterizationofthephenotypein42patients
AT hitzertmarritm primrosesyndromecharacterizationofthephenotypein42patients
AT hovehanneb primrosesyndromecharacterizationofthephenotypein42patients
AT jansensandra primrosesyndromecharacterizationofthephenotypein42patients
AT jirapetre primrosesyndromecharacterizationofthephenotypein42patients
AT lachlankatherine primrosesyndromecharacterizationofthephenotypein42patients
AT menkeleoniea primrosesyndromecharacterizationofthephenotypein42patients
AT narayananvinodh primrosesyndromecharacterizationofthephenotypein42patients
AT ortizdamara primrosesyndromecharacterizationofthephenotypein42patients
AT overwatereline primrosesyndromecharacterizationofthephenotypein42patients
AT posmykrenata primrosesyndromecharacterizationofthephenotypein42patients
AT ramseykeri primrosesyndromecharacterizationofthephenotypein42patients
AT rossialessandro primrosesyndromecharacterizationofthephenotypein42patients
AT sandovalrenatalazari primrosesyndromecharacterizationofthephenotypein42patients
AT stumpelconstance primrosesyndromecharacterizationofthephenotypein42patients
AT stuurmankyrae primrosesyndromecharacterizationofthephenotypein42patients
AT cordedduviviana primrosesyndromecharacterizationofthephenotypein42patients
AT turnpennypeter primrosesyndromecharacterizationofthephenotypein42patients
AT strisciugliopietro primrosesyndromecharacterizationofthephenotypein42patients
AT tartagliamarco primrosesyndromecharacterizationofthephenotypein42patients
AT ungersheela primrosesyndromecharacterizationofthephenotypein42patients
AT waterstodd primrosesyndromecharacterizationofthephenotypein42patients
AT turnbullclare primrosesyndromecharacterizationofthephenotypein42patients
AT hennekamraoulc primrosesyndromecharacterizationofthephenotypein42patients