Expanding the phenotype of PPP1R21-related neurodevelopmental disorder

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.PMID:38356149 | DOI:10.1111/cge.14492

Source: Clinical Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Mohammed Almannai Dana Marafi Maha S Zaki Reza Maroofian Stephanie 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 Mahmou Source Type: research