表型
神经发育障碍
张力减退
侧脑室
智力残疾
自闭症谱系障碍
全球发育迟缓
生物
遗传学
发育障碍
神经科学
心理学
自闭症
发展心理学
基因
作者
Mohammed Almannai,Dana Marafi,Maha S. Zaki,Reza Maroofian,Stéphanie Efthymiou,Nebal Waill Saadi,Bilal Filimban,Hormos Salimi Dafsari,Fatima Rahman,Shazia Maqbool,Eissa Faqeih,Fuad Al Mutairi,Hind Alsharhan,Omar Abdelaty,Saadoun Bin‐Hasan,Ruizhi Duan,Mahmoud M. Noureldeen,Alaa AlQattan,Henry Houlden,Jill V. Hunter,Jennifer E. Posey,James R. Lupski,Ayman W. El‐Hattab
摘要
Abstract PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21 , of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21‐ related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features.
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