title: RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
abstract: Intellectual disability is a neurodevelopmental disorder of impaired adaptive skills and low intelligence quotient. The overall prevalence is estimated at 2-3% in the general population with extreme clinical and genetic heterogeneity, and it has been associated with possibly causative mutations in more than 700 identified genes. In a recent review, among over 100 X-linked intellectual disability causative genes, eight were reported as "awaiting replication." Exome sequencing in a large family identified a missense mutation in RPL10 highly suggestive of X-linked intellectual disability. Herein, we report on the clinical description of four affected males. All patients presented apparent intellectual disability (4/4), psychomotor delay (4/4) with syndromic features including amniotic fluid excess (3/4), microcephaly (2/4), urogenital anomalies (3/4), cerebellar syndrome (2/4), and facial dysmorphism. In the literature, two mutations were reported in three families with affected males presenting with autism. This report confirms the implication of RPL10 mutations in neurodevelopmental disorders and extends the associated clinical spectrum from autism to syndromic intellectual disability.
authors.affiliation: Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.|FHU-TRANSLAD, Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, CHU de Dijon, Dijon, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Thevenon
authors.affiliation: Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Michot
authors.affiliation: Plateforme de bioinformatique de l'Institut Imagine, Hôpital Necker, Paris, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Bole
authors.affiliation: Plateforme de bioinformatique de l'Institut Imagine, Hôpital Necker, Paris, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Nitschke
authors.affiliation: Laboratoire de Génétique Médicale, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.
authors.forename: Mathilde
authors.initials: M
authors.lastname: Nizon
authors.affiliation: FHU-TRANSLAD, Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est, CHU de Dijon, Dijon, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.affiliation: Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.affiliation: Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.affiliation: Laboratoire de Génétique Médicale, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Bonnefont
authors.affiliation: Service de Neurologie Pédiatrique, CHU Lyon, Hôpital Femme Mère Enfant, Bron, France.
authors.forename: Vincent Des
authors.initials: VD
authors.lastname: Portes
authors.affiliation: Service de Génétique, INSERM U781, Hôpital Necker-Enfants Malades, Institut Imagine, University Sorbonne-Paris-Cité, Paris, France.
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
mesh_terms: D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D000080882:Ribosomal Protein L10; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: C000630686:RPL10 protein, human; D012269:Ribosomal Proteins
keywords: RPL10; exome sequencing; syndromic X-linked intellectual disability