Article
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clinical genetics - 1 Jun 2024
Almannai Mohammed, Marafi Dana, Zaki Maha S, Maroofian Reza, Efthymiou Stephanie, Saadi Nebal Waill, Filimban Bilal, Dafsari Hormos Salimi, Rahman Fatima, Maqbool Shazia, Faqeih Eissa, Al Mutairi Fuad, Alsharhan Hind, Abdelaty Omar, Bin-Hasan Saadoun, Duan Ruizhi, Noureldeen Mahmoud M, Alqattan Alaa, Houlden Henry, Hunter Jill V, Posey Jennifer E, Lupski James R, El-Hattab Ayman W
Abstract excerpt
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...
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