{"database":"JPOST Repository","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Xml":["https://storage.jpostdb.org/JPST003833/files/F006178.xml"],"Csv":["https://storage.jpostdb.org/JPST003833/files/20230830%20LCL%20peptide_Progenesis.csv"],"Raw":["https://storage.jpostdb.org/JPST003833/files/230825QE_Suzuki_phos_Patient.raw","https://storage.jpostdb.org/JPST003833/files/230825QE_Suzuki_phos_control.raw"],"Mgf":["https://storage.jpostdb.org/JPST003833/files/LCL%20CCDC6.mgf"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"omics_type":["Proteomics"],"submitter":["Naomichi Matsumoto, Hidehisa Takahashi"],"species":["Homo Sapiens (human)"],"full_dataset_link":["https://repository.jpostdb.org/entry/JPST003833"],"submitter_affiliation":["Yokohama city university"],"sample_protocol":[""],"repository":["jPOST"],"data_protocol":[""],"additional_accession":[]},"is_claimable":false,"name":" A de novo CCDC6 inframe deletion inducing phosphoprotein phosphatase dysfunction and arising CLAMP syndrome showing Marfan-like features","description":"Phosphoprotein phosphatases are the most abundant in the cell and regulate various cellular functions, such as cell survival, DNA damage response, tau dephosphorylation, and apoptosis. Some phosphoprotein phosphatase dysfunctions promote neurodevelopmental disorders. Exome or genome sequencing identified individuals with Marfan syndrome-like connective tissue disorders, mild neurodevelopmental disorders, and attention deficit in 11 individuals from 10 families due to a de novo in-frame deletion (NM_005436.5:c.415_417del p.Glu139del) in the CCDC6 gene. Zebrafish model analysis revealed loss of sociability and abnormal shapes in the skull, vertebra, and ribs. Proteome analyses using patient-derived lymphoblastoid cell line or mutant or wild-type CCDC6 overexpression in HeLa cells showed mutant CCDC6 strongly binds to phosphoprotein phosphatase and its regulators, causing phosphorylation regulation disorders. Interestingly, these patients showed partially overlapped findings of reported PP2A-related disorders. We demonstrate a new disorder, CLAMP syndrome, Craniofacial dysmorphisms, Language delay, Autistic features, Marfan syndrome-like findings, and Phosphoprotein phosphatase dysfunction.","dates":{"publication":"Thu May 28 00:00:00 BST 2026"},"accession":"PXD064351","cross_references":{"TAXONOMY":["9606"]}}