{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Almannai M"],"funding":["National Institute of Neurological Disorders and Stroke","Brain Research UK","Spastic Paraplegia Foundation","Multiple System Atrophy Trust","NHGRI NIH HHS","Ataxia UK","NINDS NIH HHS","National Human Genome Research Institute","Wellcome Trust","National Institute of General Medical Sciences","Universität zu Köln","NIGMS NIH HHS"],"pagination":["620-629"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11065596"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["105(6)"],"pubmed_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 bodi"],"journal":["Clinical genetics"],"pubmed_title":["Expanding the phenotype of PPP1R21-related neurodevelopmental disorder."],"pmcid":["PMC11065596"],"funding_grant_id":["UM1 HG006542","WT104033AIA","U01 HG011758","R01 GM106373","R35 NS105078","K08 HG008986","T32 GM007526","R35NS105078","WT093205MA","R01GM106373"],"pubmed_authors":["Alqattan A","Houlden H","Filimban B","Saadi NW","Noureldeen MM","Almannai M","Rahman F","Al Mutairi F","Posey JE","Hunter JV","Efthymiou S","Maqbool S","Zaki MS","Marafi D","Dafsari HS","Bin-Hasan S","Maroofian R","Abdelaty O","Faqeih E","El-Hattab AW","Duan R","Lupski JR","Alsharhan H"],"additional_accession":[]},"is_claimable":false,"name":"Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.","description":"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 bodi","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jun","modification":"2026-06-01T11:31:57.723Z","creation":"2026-04-08T11:54:09.747Z"},"accession":"S-EPMC11065596","cross_references":{"pubmed":["38356149"],"doi":["10.1111/cge.14492"]}}