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.

doi:10.1136/jmg-2022-109030

Article

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 - 19 Jan 2024

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

Abstract excerpt

BACKGROUND: 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. METHODS: As a result of an international collaboration using...

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