Pediatrics Department, San Pedro de Alcántara Hospital, Cáceres, Spain.
Genetic Unit, Mérida Hospital, Mérida, Spain.
Clin Genet. 2021 Jun;99(6):812-817. doi: 10.1111/cge.13937. Epub 2021 Feb 15.
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.
已在智力残疾、自闭症、雷特样特征和精神分裂症患者中描述了涉及 TBL1XR1 基因的错义及移码致病性变异和微缺失，其中一些患者的临床诊断为皮尔彭特综合征，这是一种罕见的多种先天性异常模式，但其他患者没有畸形表现或表现非特异性，还有一些患者仅具有与皮尔彭特综合征相关的部分特征。我们在此介绍了一例 TBL1XR1 基因的新生错义变异病例，该病例与皮尔彭特综合征和自闭症有重叠特征，这是以前在皮尔彭特综合征中未报道过的神经行为表现。该患者扩大了 TBL1XR1 基因致病性变异的表型谱。
