Genetic sequencing of MODY patients.

Maturity-onset Diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. Using next generation sequencing, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Our findings report that HNF1A and ABCC8 are among the most frequently mutated MODY genes in south India.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001003919	We performed whole genome, whole or targeted exome sequencing for 289 individuals from India. This included 152 clinically diagnosed MODY and 137 control samples. Whole genome libraries were constructed using TruSeqNano DNA Library Preparation Kit (Illumina, CA) and sequenced on Illumina HiSeq2500 (Illumina, CA). The whole exome analysis was performed using Agilent SureSelect (Santa Clara, CA) Human All Exome kit v5 (50 Mb). Exome capture libraries were sequenced on HiSeq 2500 (Illumina, CA). Targeted exome sequencing was performed using custom probes corresponding to 1965 genes implicated in pancreatic cell biology and/or diabetes.	Illumina HiSeq 2500	289

Publications	Citations
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India. Mohan V, Radha V, Nguyen TT, Stawiski EW, Pahuja KB, Goldstein LD, Tom J, Anjana RM, Kong-Beltran M, Bhangale T, Jahnavi S, Chandni R, Gayathri V, George P, Zhang N, Murugan S, Phalke S, Chaudhuri S, Gupta R, Zhang J, Santhosh S, Stinson J, Modrusan Z, Ramprasad VL, Seshagiri S, Peterson AS. BMC Med Genet 19: 2018 22	43

Publications

Citations

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
Mohan V, Radha V, Nguyen TT, Stawiski EW, Pahuja KB, Goldstein LD, Tom J, Anjana RM, Kong-Beltran M, Bhangale T, Jahnavi S, Chandni R, Gayathri V, George P, Zhang N, Murugan S, Phalke S, Chaudhuri S, Gupta R, Zhang J, Santhosh S, Stinson J, Modrusan Z, Ramprasad VL, Seshagiri S, Peterson AS. BMC Med Genet 19: 2018 22