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A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion
Author(s) -
Pons Linda,
Cordier Marie Pierre,
Labalme Audrey,
Till Marianne,
Louvrier Camille,
SchluthBolard Caroline,
Lesca Gaetan,
Edery Patrick,
Sanlaville Damien
Publication year - 2015
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.36759
Subject(s) - intellectual disability , haploinsufficiency , autism , facial dysmorphism , corepressor , genetics , medicine , biology , gene , repressor , psychiatry , transcription factor , phenotype
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. © 2014 Wiley Periodicals, Inc.