Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Human genetics - 1 Apr 2017
Depienne Christel, Nava Caroline, Keren Boris, Heide Solveig, Rastetter Agnès, Passemard Sandrine, Chantot-Bastaraud Sandra, Moutard Marie-Laure, Agrawal Pankaj B, VanNoy Grace, Stoler Joan M, Amor David J, Billette de Villemeur Thierry, Doummar Diane, Alby Caroline, Cormier-Daire Valérie, Garel Catherine, Marzin Pauline, Scheidecker Sophie, de Saint-Martin Anne, Hirsch Edouard, Korff Christian, Bottani Armand, Faivre Laurence, Verloes Alain, Orzechowski Christine, Burglen Lydie, Leheup Bruno, Roume Joelle, Andrieux Joris, Sheth Frenny, Datar Chaitanya, Parker Michael J, Pasquier Laurent, Odent Sylvie, Naudion Sophie, Delrue Marie-Ange, Le Caignec Cédric, Vincent Marie, Isidor Bertrand, Renaldo Florence, Stewart Fiona, Toutain Annick, Koehler Udo, Häckl Birgit, von Stülpnagel Celina, Kluger Gerhard, Møller Rikke S, Pal Deb, Jonson Tord, Soller Maria, Verbeek Nienke E, van Haelst Mieke M, de Kovel Carolien, Koeleman Bobby, Monroe Glen, van Haaften Gijs, Attié-Bitach Tania, Boutaud Lucile, Héron Delphine, Mignot Cyril
Abstract excerpt
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the...
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