1. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
- Author
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Arroyo Carrera I, Fernández-Burriel M, Lapunzina P, Tenorio JA, García Navas VD, and Márquez Isidro E
- Subjects
- Child, Preschool, Humans, Male, Phenotype, Autistic Disorder genetics, Intellectual Disability genetics, Mutation, Missense genetics, Receptors, Cytoplasmic and Nuclear genetics, Repressor Proteins genetics
- Abstract
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., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2021
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