Baylor College of Medicine, Houston, TX, USA.
Clinical Care Center - Psychology Service, Texas Children's Hospital, 6701 Fannin Street, Suite 1630, Houston, TX, 77030-2608, USA.
J Autism Dev Disord. 2020 Jul;50(7):2491-2500. doi: 10.1007/s10803-018-3775-7.
Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder.
MAGEL2 基因是 15q11 染色体上 Prader-Willi 综合征（PWS）关键区域内的一个蛋白编码基因，其截断变异会导致 Schaaf-Yang 综合征（SYS）——一种神经发育障碍，与 PWS 有几个共同的临床特征。本研究旨在对 9 名分子确诊的 SYS 患者样本进行神经行为表型分析。参与者接受了发育/智力功能、适应功能、自闭症症状和行为/情绪功能的评估。与 PWS 个体相比，SYS 患者表现出更严重的认知缺陷、没有强迫症或强迫症，以及自闭症谱系障碍的发生率增加。
