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

Katalin Szakszon; Charles Marques Lourenco; Bert Louis Callewaert; David Geneviève; Flavien Rouxel; Denis Morin; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Wesley G Patterson; Raymond Louie; Filippo Pinto e Vairo; Eric Klee; Charu Kaiwar; Ralitza H Gavrilova; Katherine E Agre; Sebastien Jacquemont; Jizi Khadijé; Jacques Giltay; Koen van Gassen; Gabriella Merő; Erica Gerkes; Bregje W Van Bon; Tuula Rinne; Rolph Pfundt; Han G Brunner; Oana Caluseriu; Ute Grasshoff; Martin Kehrer; Tobias B Haack; Melik Malek Khelifa; Anke Katharina Bergmann; Anna Maria Cueto-González; Ariadna Campos Martorell; Shwetha Ramachandrappa; Lindsey B Sawyer; Pascale Fasel; Dominique Braun; Atallah Isis; Andrea Superti-Furga; Vanda McNiven; David Chitayat; Syed Anas Ahmed; Heiko Brennenstuhl; Eva MC Schwaibolf; Gladys Battisti; Benoit Parmentier; Servi J C Stevens

doi:10.1136/jmg-2022-109030

Article info

Genotype-phenotype correlations

Original research

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

Authors

Katalin Szakszon Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, HungaryRare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Debrecen, Hungary PubMed articles Google scholar articles
Charles Marques Lourenco Neurogenetics Unit - Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Medicine School of Sao Jose do Rio Preto, Sao Jose do Rio Preto, Brazil PubMed articles Google scholar articles
Bert Louis Callewaert Center for Medical Genetics, University Hospital Ghent, Gent, BelgiumDepartment of Biomolecular Medicine, Ghent University, Ghent, Belgium PubMed articles Google scholar articles
David Geneviève Montpellier University, Inserm Unit U1183, Reference Center for Rare Disease: Developmental Anomalies. Clinical Genetic Unit, CHU Montpellier, Montpellier, FranceRare Congenital Malformations and Rare Intellectual Disability (ERN ITHACA), European Reference Networks, Montpellier, France PubMed articles Google scholar articles
Flavien Rouxel Génétique Clinique, Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier University, Centre de Référence Anomalies du Développement SOOR, Montpellier, France PubMed articles Google scholar articles
Denis Morin Rare Kidney Disease Center, Montpellier University Hospital, Montpellier, France PubMed articles Google scholar articles
Anne-Sophie Denommé-Pichon Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, FranceInserm UMR1231 team GAD, University of Burgundy, Dijon, France PubMed articles Google scholar articles
Antonio Vitobello Functional Unity of Innovative Diagnosis for Rare Diseases, University of Burgundy, Dijon, FranceInserm UMR1231 team GAD, University of Burgundy, Dijon, France PubMed articles Google scholar articles
Wesley G Patterson Greenwood Genetic Center Foundation, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Raymond Louie Greenwood Genetic Center Inc, Greenwood, South Carolina, USA PubMed articles Google scholar articles
Filippo Pinto e Vairo Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA PubMed articles Google scholar articles
Eric Klee Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA PubMed articles Google scholar articles
Charu Kaiwar Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA PubMed articles Google scholar articles
Ralitza H Gavrilova Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA PubMed articles Google scholar articles
Katherine E Agre Department of Clinical Genomics, Center for Individualized Medicine, Mayo Clinic Research Rochester, Rochester, Minnesota, USA PubMed articles Google scholar articles
Sebastien Jacquemont Sainte-Justine Research Center, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, CanadaDepartment of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada PubMed articles Google scholar articles
Jizi Khadijé Department of Medical Genetics, Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada PubMed articles Google scholar articles
Jacques Giltay Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Koen van Gassen Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Gabriella Merő Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, Hungary PubMed articles Google scholar articles
Erica Gerkes University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands PubMed articles Google scholar articles
Bregje W Van Bon Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
Tuula Rinne Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
Rolph Pfundt Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articles Google scholar articles
Han G Brunner Klinische Genetica, Maastricht University Medical Centre, Maastricht, The Netherlands PubMed articles Google scholar articles
Oana Caluseriu Medical Genetics Clinic, University of Alberta, Edmonton, Alberta, Canada PubMed articles Google scholar articles
Ute Grasshoff Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany PubMed articles Google scholar articles
Martin Kehrer Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany PubMed articles Google scholar articles
Tobias B Haack Institute of Medical Genetics and Applied Genomics, University Clinic, Tübingen University, Tübingen, Germany PubMed articles Google scholar articles
Melik Malek Khelifa Department of Human Genetics, Medical College Hannover, Hannover, Germany PubMed articles Google scholar articles
Anke Katharina Bergmann Department of Human Genetics, Hannover Medical School, Hannover, Germany PubMed articles Google scholar articles
Anna Maria Cueto-González Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, SpainRare Congenital Malformations and Rare intellectual Disability (ERN ITHACA), European Reference Networks, Barcelona, Spain PubMed articles Google scholar articles
Ariadna Campos Martorell Pediatric Endocrinology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, SpainEndocrinology Group, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Vall d'Hebron Research Institute, Barcelona, Spain PubMed articles Google scholar articles
Shwetha Ramachandrappa Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Lindsey B Sawyer Department of Medical Genetics, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA PubMed articles Google scholar articles
Pascale Fasel Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland PubMed articles Google scholar articles
Dominique Braun Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland PubMed articles Google scholar articles
Atallah Isis Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland PubMed articles Google scholar articles
Andrea Superti-Furga Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland PubMed articles Google scholar articles
Vanda McNiven University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, CanadaDivision of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada PubMed articles Google scholar articles
David Chitayat Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaThe Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada PubMed articles Google scholar articles
Syed Anas Ahmed University Health Network and Mount Sinai Hospital, Fred A Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada PubMed articles Google scholar articles
Heiko Brennenstuhl Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany PubMed articles Google scholar articles
Eva MC Schwaibolf Insittute of Human Genetics, Heidelberg University, Heidelberg, Germany PubMed articles Google scholar articles
Gladys Battisti Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium PubMed articles Google scholar articles
Benoit Parmentier Centre de Génétique Humaine, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium PubMed articles Google scholar articles
Servi J C Stevens Klinische Genetica, Maastricht University Medical Center, Maastricht, The Netherlands PubMed articles Google scholar articles

Correspondence to Dr Katalin Szakszon, Faculty of Medicine Institute of Pediatrics, University of Debrecen, Debrecen, 4032, Hungary; szakszon.katalin{at}med.unideb.hu

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Citation

Szakszon K, Lourenco CM, Callewaert BL, et al

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

Journal of Medical Genetics Published Online First: 14 August 2023. doi: 10.1136/jmg-2022-109030

Publication history

Received November 14, 2022
Accepted July 27, 2023
First published August 14, 2023.

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