title: A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
abstract: We report here on an 8-year-old girl and her mother, both displaying similar facial dysmorphism, speech delay, and mild to moderate intellectual disability. Array-CGH studies revealed the same interstitial 3q26.32 microdeletion encompassing a single coding gene, TBL1XR1, in both patients. The TBL1XR1 protein, which has four WD40 repeats, has been shown to bind the nuclear corepressor (NCOR) and histone deacetylase-3 complexes (HDAC3). TBL1XR1 mutations have recently been implicated in autism spectrum disorders, but our patients displayed no autistic behavior. Our findings suggest that TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior.
authors.affiliation: Department of Genetics, Lyon University Hospital, Lyons, France.
authors.forename: Linda
authors.initials: L
authors.lastname: Pons
authors.forename: Marie Pierre
authors.initials: MP
authors.lastname: Cordier
authors.forename: Audrey
authors.initials: A
authors.lastname: Labalme
authors.forename: Marianne
authors.initials: M
authors.lastname: Till
authors.forename: Camille
authors.initials: C
authors.lastname: Louvrier
authors.forename: Caroline
authors.initials: C
authors.lastname: Schluth-Bolard
authors.forename: Gaetan
authors.initials: G
authors.lastname: Lesca
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011247:Pregnancy; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D009687:Nuclear Proteins; D018160:Receptors, Cytoplasmic and Nuclear; D012097:Repressor Proteins; C473691:TBL1XR1 protein, human
keywords: 3q26 deletion; TBL1XR1; array comparative genomic hybridization; intellectual disability