{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Beaman MM"],"funding":["NINDS NIH HHS","National Institutes of Health","NIGMS NIH HHS","NIH HHS"],"pagination":["2757-2767"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11141336"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["191(11)"],"pubmed_abstract":["Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abnormalities and developmental delay, while biallelic loss of function variants exhibit phenotypes including microcephaly and craniofacial abnormalities, cardiac and genitourinary malformations, and abnormal neurologic activity. We report six individuals from three unrelated families harboring biallelic deleterious variants in CAPN15 with phenotypes overlapping those previously described for this disorder. Of the individuals affected, four demonstrate radiographic evidence of the classical triad of Dandy-Walker malformation including hypopl"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome."],"pmcid":["PMC11141336"],"funding_grant_id":["R01NS098004","R01 NS098004","T32 GM145449","T32 GM007171"],"pubmed_authors":["Lee S","Cohen JL","Gregor A","Beaman MM","Gleeson JG","McDonald MT","Jensen C","Zaki MS","Hobbs CA","Guidugli L","Hammer M","Barrows C","Masri AT","Deak KL"],"additional_accession":[]},"is_claimable":false,"name":"Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.","description":"Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abnormalities and developmental delay, while biallelic loss of function variants exhibit phenotypes including microcephaly and craniofacial abnormalities, cardiac and genitourinary malformations, and abnormal neurologic activity. We report six individuals from three unrelated families harboring biallelic deleterious variants in CAPN15 with phenotypes overlapping those previously described for this disorder. Of the individuals affected, four demonstrate radiographic evidence of the classical triad of Dandy-Walker malformation including hypopl","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2026-06-02T04:01:34.289Z","creation":"2025-04-06T23:17:35.701Z"},"accession":"S-EPMC11141336","cross_references":{"pubmed":["37596828"],"doi":["10.1002/ajmg.a.63363"]}}