<scp> <i>TBL1XR1</i> </scp> associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum
I. Arroyo Carrera, Miguel Fernández‐Burriel, Pablo Lapunzina, Jair Tenorio, Verónica Deyanira García Navas, Elena Márquez Isidro
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.