TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum

Missense and frameshift pathogenic variants and microdeletions involving TBL1XR1 gene have been described in patients with intellectual disability, autism, Rett‐like features and schizophrenia, some of them with the clinical diagnosis of Pierpont syndrome, a rare pattern of multiple congenital anoma...

Full description

Saved in:
Bibliographic Details
Published in:Clinical genetics 2021-06, Vol.99 (6), p.812-817
Main Authors: Arroyo Carrera, Ignacio, Fernández‐Burriel, Miguel, Lapunzina, Pablo, Tenorio, Jair Antonio, García Navas, Verónica Deyanira, Márquez Isidro, Elena
Format: Article
Language:English
Subjects:
Autism
autism spectrum disorder
Autistic Disorder - genetics
Child, Preschool
Congenital defects
Humans
Intellectual disabilities
intellectual disability
Intellectual Disability - genetics
Male
Mental disorders
Mutation, Missense - genetics
Phenotype
Pierpont syndrome
Receptors, Cytoplasmic and Nuclear - genetics
Repressor Proteins - genetics
Schizophrenia
TBL1XR1
WD40 repeat domain
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Missense and frameshift pathogenic variants and microdeletions involving TBL1XR1 gene have been described in patients with intellectual disability, autism, Rett‐like features and schizophrenia, some of them with the clinical diagnosis of Pierpont syndrome, a rare pattern of multiple congenital anomalies, but others without dysmorphic findings or with non‐specific ones, and also patients with only some of the features associated with Pierpont syndrome. We here present a case with a de novo novel missense variant in TBL1XR1 gene with overlapping features with Pierpont syndrome and autism, a neurobehavioral manifestation not previously reported in Pierpont syndrome. This patient expands the phenotypic spectrum of TBL1XR1 gene pathogenic variants.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13937