biostudies-literatureKaur NDBT/Wellcome Trust India AllianceNational Institutes of HealthWellcome TrustNIH HHSe63914https://www.ebi.ac.uk/biostudies/studies/S-EPMC7617591biostudies-literatureUnknown197(3)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. FourteeAmerican journal of medical genetics. Part ANeuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.PMC7617591IA/CRC/20/1/600002Kulkarni RNarayanan DLSharma SSiddiqui SNaik RBielas SNair KVShukla AKaur NBhat VGirisha KMNayak SSPrasannakumar APMascarenhas SRao LPYatheesha BLPatil SJMajethia PHunakunti Bdo Rosario MCNampoothiri SRamesh Bhat YfalseNeuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.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. Fourtee2025-01-01T00:00:00Z2025 Mar2026-05-22T03:09:01.971Z2025-07-12T03:04:38.491ZS-EPMC76175913947029610.1002/ajmg.a.63914