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