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Thierry, Gaelle; Bénéteau, Claire; Pichon, Olivier; Flori, Elisabeth; Isidor, Bertrand; Popelard, Françoise; Delrue, Marie‐Ange; Duboscq‐Bidot, Laetitia; Thuresson, Ann‐Charlotte; van Bon, Bregje W.M.; Cailley, Dorothée; Rooryck, Caroline; Paubel, Agathe; Metay, Corinne; Dusser, Anne; Pasquier, Laurent; Béri, Mylène; Bonnet, Céline; Jaillard, Sylvie; Dubourg, Christèle; Tou, Bassim; Quéré, Marie‐Pierre; Soussi‐Zander, Cecilia; Toutain, Annick; [...]

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

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  • Medientyp: E-Artikel
  • Titel: Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
  • Beteiligte: Thierry, Gaelle; Bénéteau, Claire; Pichon, Olivier; Flori, Elisabeth; Isidor, Bertrand; Popelard, Françoise; Delrue, Marie‐Ange; Duboscq‐Bidot, Laetitia; Thuresson, Ann‐Charlotte; van Bon, Bregje W.M.; Cailley, Dorothée; Rooryck, Caroline; Paubel, Agathe; Metay, Corinne; Dusser, Anne; Pasquier, Laurent; Béri, Mylène; Bonnet, Céline; Jaillard, Sylvie; Dubourg, Christèle; Tou, Bassim; Quéré, Marie‐Pierre; Soussi‐Zander, Cecilia; Toutain, Annick; [...]
  • Erschienen: Wiley, 2012
  • Erschienen in: American Journal of Medical Genetics Part A
  • Sprache: Englisch
  • DOI: 10.1002/ajmg.a.35423
  • ISSN: 1552-4825; 1552-4833
  • Schlagwörter: Genetics (clinical) ; Genetics
  • Entstehung:
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum abnormalities. However, the precise relationship between most of deleted genes and the clinical features in these patients still remains unclear. We studied 11 unrelated patients with 1q44 microdeletion. We showed that the deletions occurred de novo in all patients for whom both parents' DNA was available (10/11). All patients presented with moderate to severe ID, seizures and non‐specific craniofacial anomalies. By oligoarray‐based comparative genomic hybridization (aCGH) covering the 1q44 region at a high resolution, we obtained a critical deleted region containing two coding genes—<jats:italic>HNRNPU</jats:italic> and <jats:italic>FAM36A</jats:italic>—and one non‐coding gene—<jats:italic>NCRNA00201</jats:italic>. All three genes were expressed in different normal human tissues, including in human brain, with highest expression levels in the cerebellum. Mutational screening of the <jats:italic>HNRNPU</jats:italic> and <jats:italic>FAM36A</jats:italic> genes in 191 patients with unexplained isolated ID did not reveal any deleterious mutations while the <jats:italic>NCRNA00201</jats:italic> non‐coding gene was not analyzed. Nine of the 11 patients did not present with microcephaly or corpus callosum abnormalities and carried a small deletion containing <jats:italic>HNRNPU</jats:italic>, <jats:italic>FAM36A</jats:italic>, and <jats:italic>NCRNA00201</jats:italic> but not <jats:italic>AKT3</jats:italic> and <jats:italic>ZNF238</jats:italic>, two centromeric genes. These results suggest that <jats:italic>HNRNPU</jats:italic>, <jats:italic>FAM36A</jats:italic>, and <jats:italic>NCRNA00201</jats:italic> are not major genes for microcephaly and corpus callosum abnormalities but are good candidates for ID and seizures. © 2012 Wiley Periodicals, Inc.</jats:p>