Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations

• Published in: European journal of medical genetics Vol. 61; no. 1; pp. 29 - 33
• Main Authors: Vaqueiro, Ana Carolina, de Oliveira, Claudiner Pereira, Cordoba, Mara Santos, Versiani, Beatriz Ribeiro, de Carvalho, Camila Xavier, Alves Rodrigues, Pedro Guilherme, de Oliveira, Silviene Fabiana, Mazzeu, Juliana Forte, Pic-Taylor, Aline
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01-01-2018
• Subjects: Brain - abnormalities; Brain malformation; Cardiac malformation; Child; Dysmorphisms; Female; Gene Deletion; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Intellectual disability; Intellectual Disability - genetics; Intellectual Disability - pathology; Microdeletion 3q26.32; Nuclear Proteins - genetics; Phenotype; Receptors, Cytoplasmic and Nuclear - genetics; Repressor Proteins - genetics; Syndrome; TBL1XR1 deletion; Brain malformation; Microdeletion 3q26.32; Intellectual disability; Cardiac malformation; Dysmorphisms; TBL1XR1 deletion
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2017.10.008

The TBL1XR1 gene product is a nuclear protein ubiquitously produced. The protein is a component of SMRT/N-CoR co-repressor complexes and participates in the molecular switch of specific gene transcription. Deletions of the TBL1XR1 gene have been described in two families to date, both presenting intellectual disability and dysmorphisms. Rare recurrent chromosomal micro-rearrangements, particularly those involving single genes, represent a challenge for clinicians to ensure correlation with phenotype due to the paucity of previously described cases. Here we present a patient harbouring a TBL1XR1 gene deletion detected by chromosome microarray analysis. In addition to intellectual disability, the patient presents dysmorphic features and multiple cardiac malformations, together with brain malformation, thus contributing to the phenotypic characterization of this rare microdeletion and to the TBL1XR1 gene function.