{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Jacob P"],"funding":["Department of Biotechnology, Ministry of Science and Technology (DBT)","Indian Council of Medical Research (ICMR)","Council of Scientific and Industrial Research","Indian Council of Medical Research","DBT/Wellcome Trust India Alliance","Council of Scientific and Industrial Research (CSIR)","None","Wellcome Trust","Department of Biotechnology, Ministry of Science and Technology"],"pagination":["607-613"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7617588"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["33(5)"],"pubmed_abstract":["Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier. We achieved a clinical-molecular diagnosis in 145 families by targeted analysis in 37 and next generation sequencing (exomes and genomes) in 108 families that resulted in a diagnostic yield of 73.6% (145 of 197 families). We identified 149 causal variants, of which 85 were novel, across 73 genes. Eighty-one distinct monogenic forms of skeletal dysplasia were observed with a high proportion of autosomal recessive skeletal dysplasias (60%, 84 fami"],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia."],"pmcid":["PMC7617588"],"funding_grant_id":["BMS 54/2/2013","08/028(0002)/2019-EMR-I","IA/CRC/20/1/600002","BTI/AAQ/01/CDFD-Flagship/2019","Grant Reference number: IA/CRC/20/1/600002)"],"pubmed_authors":["Soni JP","Shenoy RD","Gowrishankar K","Girisha KM","Shah H","Banerjee A","Patil SJ","Jacob P","Muranjan M","Suri D","Nampoothiri S","Phadke SR","Singh S","Mortier G","Hariharan SV","Bajaj S","Narayanan DL","Dhingra B","Bhat BV","Shukla A","Kapoor S","Nishimura G","Kamath N","Dalal A","Bhavani GS","Mamadapur M"],"additional_accession":[]},"is_claimable":false,"name":"Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.","description":"Skeletal dysplasias are a clinically and genetically heterogeneous group of rare disorders. Studies from large cohorts are essential to provide insights into the disease epidemiology, phenotypic spectrum, and mutational profiles. Here we enumerate additional 248 Indians from 197 families with a skeletal dysplasia, following a similar study earlier. We achieved a clinical-molecular diagnosis in 145 families by targeted analysis in 37 and next generation sequencing (exomes and genomes) in 108 families that resulted in a diagnostic yield of 73.6% (145 of 197 families). We identified 149 causal variants, of which 85 were novel, across 73 genes. Eighty-one distinct monogenic forms of skeletal dysplasia were observed with a high proportion of autosomal recessive skeletal dysplasias (60%, 84 fami","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-01T12:58:01.411Z","creation":"2025-07-08T03:12:47.905Z"},"accession":"S-EPMC7617588","cross_references":{"pubmed":["39706863"],"doi":["10.1038/s41431-024-01776-8"]}}