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De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability
Author(s) -
Tabet AnneClaude,
Leroy Camille,
Dupont Céline,
Serrano Emilie,
Hernandez Karen,
Gallard Jennifer,
Pouvreau Nathalie,
Gadisseux JeanFrançois,
Benzacken Brigitte,
Verloes Alain
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36619
Subject(s) - haploinsufficiency , intellectual disability , autism , genetics , snp , psychology , developmental psychology , gene , biology , phenotype , single nucleotide polymorphism , genotype
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. © 2014 Wiley Periodicals, Inc.