title: De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
abstract: We report on a 6-year-old child with a de novo 1.6 Mb deletion in the 3q26.31q26.32 region identified by SNP array, involving only one relevant gene: TBL1XR1. The girl shows non-specific, mild to moderate intellectual deficiency but no autistic behavior. Point mutations in TBL1XR1 have recently been implicated in three patients with intellectual disability (ID) and autistic features. Our report supports that haploinsufficiency for TBL1XR1 could be implicated in non-ASD autosomal dominant ID.
authors.affiliation: Department of Genetics, APHP-Robert DEBRE University Hospital, Paris VII-Denis Diderot Medical School and INSERM UMR 1141 "PROTECT", Paris, France.
authors.forename: Anne-Claude
authors.initials: AC
authors.lastname: Tabet
authors.forename: Camille
authors.initials: C
authors.lastname: Leroy
authors.forename: Céline
authors.initials: C
authors.lastname: Dupont
authors.forename: Emilie
authors.initials: E
authors.lastname: Serrano
authors.forename: Karen
authors.initials: K
authors.lastname: Hernandez
authors.forename: Jennifer
authors.initials: J
authors.lastname: Gallard
authors.forename: Nathalie
authors.initials: N
authors.lastname: Pouvreau
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Gadisseux
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D019066:Facies; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D018160:Receptors, Cytoplasmic and Nuclear; D012097:Repressor Proteins; C473691:TBL1XR1 protein, human
keywords: TBL1XR1; intellectual disability