{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kaur N"],"funding":["DBT/Wellcome Trust India Alliance","National Institutes of Health","Wellcome Trust","NIH HHS"],"pagination":["e63914"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7617591"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["197(3)"],"pubmed_abstract":["Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed. Molecular diagnosis was achieved in 22 out of 24 families (92%). Four families (4/9, 44%) were diagnosed with targeted testing and 18 families (18/23, 78%) were diagnosed using broad genomic testing. Overall, 14 monogenic disorders were identified. Twenty disease-causing variants were identified in 14 genes including PLP1, GJC2, POLR1C, TUBB4A, UFM1, NKX6-2, DEGS1, RNASEH2C, HEXA, ATP7A, SETBP1, GRIN2B, OCLN, and ZBTB18. Among these, nine (45%) variants are novel. Fourtee"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population."],"pmcid":["PMC7617591"],"funding_grant_id":["IA/CRC/20/1/600002"],"pubmed_authors":["Kulkarni R","Narayanan DL","Sharma S","Siddiqui S","Naik R","Bielas S","Nair KV","Shukla A","Kaur N","Bhat V","Girisha KM","Nayak SS","Prasannakumar AP","Mascarenhas S","Rao LP","Yatheesha BL","Patil SJ","Majethia P","Hunakunti B","do Rosario MC","Nampoothiri S","Ramesh Bhat Y"],"additional_accession":[]},"is_claimable":false,"name":"Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.","description":"Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological evaluation. A combinatorial approach of targeting and/or genomic testing was employed. Molecular diagnosis was achieved in 22 out of 24 families (92%). Four families (4/9, 44%) were diagnosed with targeted testing and 18 families (18/23, 78%) were diagnosed using broad genomic testing. Overall, 14 monogenic disorders were identified. Twenty disease-causing variants were identified in 14 genes including PLP1, GJC2, POLR1C, TUBB4A, UFM1, NKX6-2, DEGS1, RNASEH2C, HEXA, ATP7A, SETBP1, GRIN2B, OCLN, and ZBTB18. Among these, nine (45%) variants are novel. Fourtee","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-05-22T03:09:01.971Z","creation":"2025-07-12T03:04:38.491Z"},"accession":"S-EPMC7617591","cross_references":{"pubmed":["39470296"],"doi":["10.1002/ajmg.a.63914"]}}