A New Syndrome of Intellectual Disability with Dysmorphism Due to TBL1XR1 Deletion

作者：Pons Linda; Cordier Marie Pierre; Labalme Audrey; Till Marianne; Louvrier Camille; Schluth Bolard Caroline; Lesca Gaetan; Edery Patrick; Sanlaville Damien^*

来源：American Journal of Medical Genetics, Part A, 2015, 167(1): 164-168.

DOI：10.1002/ajmg.a.36759

• TBL1XR1
• intellectual disability
• array comparative genomic hybridization
• 3q26 deletion

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.

• 出版日期2015-1