Titre
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Szakszon, K.
Auteure/Auteur
Lourenco, C.M.
Auteure/Auteur
Callewaert, B.L.
Auteure/Auteur
Geneviève, D.
Auteure/Auteur
Rouxel, F.
Auteure/Auteur
Morin, D.
Auteure/Auteur
Denommé-Pichon, A.S.
Auteure/Auteur
Vitobello, A.
Auteure/Auteur
Patterson, W.G.
Auteure/Auteur
Louie, R.
Auteure/Auteur
Pinto E Vairo, F.
Auteure/Auteur
Klee, E.
Auteure/Auteur
Kaiwar, C.
Auteure/Auteur
Gavrilova, R.H.
Auteure/Auteur
Agre, K.E.
Auteure/Auteur
Jacquemont, S.
Auteure/Auteur
Khadijé, J.
Auteure/Auteur
Giltay, J.
Auteure/Auteur
van Gassen, K.
Auteure/Auteur
Merő, G.
Auteure/Auteur
Gerkes, E.
Auteure/Auteur
Van Bon, B.W.
Auteure/Auteur
Rinne, T.
Auteure/Auteur
Pfundt, R.
Auteure/Auteur
Brunner, H.G.
Auteure/Auteur
Caluseriu, O.
Auteure/Auteur
Grasshoff, U.
Auteure/Auteur
Kehrer, M.
Auteure/Auteur
Haack, T.B.
Auteure/Auteur
Khelifa, M.M.
Auteure/Auteur
Bergmann, A.K.
Auteure/Auteur
Cueto-González, A.M.
Auteure/Auteur
Martorell, A.C.
Auteure/Auteur
Ramachandrappa, S.
Auteure/Auteur
Sawyer, L.B.
Auteure/Auteur
Fasel, P.
Auteure/Auteur
Braun, D.
Auteure/Auteur
Isis, A.
Auteure/Auteur
Superti-Furga, A.
Auteure/Auteur
McNiven, V.
Auteure/Auteur
Chitayat, D.
Auteure/Auteur
Ahmed, S.A.
Auteure/Auteur
Brennenstuhl, H.
Auteure/Auteur
Schwaibolf, E.M.
Auteure/Auteur
Battisti, G.
Auteure/Auteur
Parmentier, B.
Auteure/Auteur
Stevens, SJC
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1468-6244
Statut éditorial
Publié
Date de publication
2024-01-19
Volume
61
Numéro
2
Première page
132
Dernière page/numéro d’article
141
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
Pathogenic variants in the zinc finger protein coding genes are rare causes of intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing GDACCF syndrome (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies; MIM #617260) have been reported in five individuals so far.
As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals.
The core clinical phenotype is characterised by developmental delay particularly in the domain of speech development, postnatal growth retardation, microcephaly and facial dysmorphism. Corpus callosum abnormalities appear less frequently than suggested by previous observations. The identified mutations concerned nonsense or frameshift variants that were mainly located in the last exon of the ZNF148 gene. Heterozygous deletion including the entire ZNF148 gene was found in only one case. Most mutations occurred de novo, but were inherited from an affected parent in two families.
The GDACCF syndrome is clinically diverse, and a genotype-first approach, that is, exome sequencing is recommended for establishing a genetic diagnosis rather than a phenotype-first approach. However, the syndrome may be suspected based on some recurrent, recognisable features. Corpus callosum anomalies were not as constant as previously suggested, we therefore recommend to replace the term 'GDACCF syndrome' with 'ZNF148-related neurodevelopmental disorder'.
As a result of an international collaboration using GeneMatcher Phenome Central Repository and personal communications, here we describe the clinical and molecular genetic characteristics of 22 previously unreported individuals.
The core clinical phenotype is characterised by developmental delay particularly in the domain of speech development, postnatal growth retardation, microcephaly and facial dysmorphism. Corpus callosum abnormalities appear less frequently than suggested by previous observations. The identified mutations concerned nonsense or frameshift variants that were mainly located in the last exon of the ZNF148 gene. Heterozygous deletion including the entire ZNF148 gene was found in only one case. Most mutations occurred de novo, but were inherited from an affected parent in two families.
The GDACCF syndrome is clinically diverse, and a genotype-first approach, that is, exome sequencing is recommended for establishing a genetic diagnosis rather than a phenotype-first approach. However, the syndrome may be suspected based on some recurrent, recognisable features. Corpus callosum anomalies were not as constant as previously suggested, we therefore recommend to replace the term 'GDACCF syndrome' with 'ZNF148-related neurodevelopmental disorder'.
PID Serval
serval:BIB_64727C0AA5E2
PMID
Date de création
2023-08-21T06:18:21.273Z
Date de création dans IRIS
2025-05-21T04:30:35Z