De novo deletion of TBL1XR1 in a child with non‐specific developmental delay supports its implication in intellectual disability. Issue 9 (28th May 2014)

• Record Type: Journal Article
• Authors: Tabet, Anne‐Claude; Leroy, Camille; Dupont, Céline; Serrano, Emilie; Hernandez, Karen; Gallard, Jennifer; Pouvreau, Nathalie; Gadisseux, Jean‐François; Benzacken, Brigitte; Verloes, Alain
• Is Part Of: American journal of medical genetics. Volume 164:Issue 9(2014.)
• Page Start: 2335
• Page End: 2337
• Publication Date: 2014-05-28
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36619
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36619-sec-0001" sec-type="section"> <p>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: <italic>TBL1XR1</italic>. The girl shows non‐specific, mild to moderate intellectual deficiency but no autistic behavior. Point mutations in <italic>TBL1XR1</italic> have recently been implicated in three patients with intellectual disability (ID) and autistic features. Our report supports that haploinsufficiency for <italic>TBL1XR1</italic> could be implicated in non‐ASD autosomal dominant ID. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>