Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic
Abstract Genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY) in Kuwait were investigated. A newly established a National Referral Clinic, the Dasman Diabetes Institute (DDI-NRC), assessed forty-five members from 31 suspected MODY families by whole exome sequencing. Thirty-th...
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2021
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oai:doaj.org-article:24dd291e9c70417eb4789f4dd5f8f7ac2021-12-02T19:06:29ZIdentification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic10.1038/s41598-021-95552-z2045-2322https://doaj.org/article/24dd291e9c70417eb4789f4dd5f8f7ac2021-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-95552-zhttps://doaj.org/toc/2045-2322Abstract Genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY) in Kuwait were investigated. A newly established a National Referral Clinic, the Dasman Diabetes Institute (DDI-NRC), assessed forty-five members from 31 suspected MODY families by whole exome sequencing. Thirty-three of the 45 samples were independently sequenced at the DDI-NRI, Exeter University, UK ( https://www.diabetesgenes.org/ ) using targeted 21-gene panel approach. Pathogenic mutations in GCK, HNF1A, HNF1B, HNF4A, and PDX1 confirmed MODY in 7 families, giving an overall positivity rate of 22.6% in this cohort. Novel variants were identified in three families in PDX1, HNF1B, and HNF1B. In this cohort, Multiplex Ligation-dependent Probe Amplification assay did not add any value to MODY variant detection rate in sequencing negative cases. In highly selected familial autoantibody negative diabetes, known MODY genes represent a minority and 77.3% of the familial cases have yet to have a causal variant described.Hessa Al-KandariDalia Al-AbdulrazzaqLena DavidssonRasheeba NizamSindhu JacobMotasem MelhemSumi Elsa JohnFahd Al-MullaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-11 (2021) |
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Medicine R Science Q Hessa Al-Kandari Dalia Al-Abdulrazzaq Lena Davidsson Rasheeba Nizam Sindhu Jacob Motasem Melhem Sumi Elsa John Fahd Al-Mulla Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic |
| description |
Abstract Genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY) in Kuwait were investigated. A newly established a National Referral Clinic, the Dasman Diabetes Institute (DDI-NRC), assessed forty-five members from 31 suspected MODY families by whole exome sequencing. Thirty-three of the 45 samples were independently sequenced at the DDI-NRI, Exeter University, UK ( https://www.diabetesgenes.org/ ) using targeted 21-gene panel approach. Pathogenic mutations in GCK, HNF1A, HNF1B, HNF4A, and PDX1 confirmed MODY in 7 families, giving an overall positivity rate of 22.6% in this cohort. Novel variants were identified in three families in PDX1, HNF1B, and HNF1B. In this cohort, Multiplex Ligation-dependent Probe Amplification assay did not add any value to MODY variant detection rate in sequencing negative cases. In highly selected familial autoantibody negative diabetes, known MODY genes represent a minority and 77.3% of the familial cases have yet to have a causal variant described. |
| format |
article |
| author |
Hessa Al-Kandari Dalia Al-Abdulrazzaq Lena Davidsson Rasheeba Nizam Sindhu Jacob Motasem Melhem Sumi Elsa John Fahd Al-Mulla |
| author_facet |
Hessa Al-Kandari Dalia Al-Abdulrazzaq Lena Davidsson Rasheeba Nizam Sindhu Jacob Motasem Melhem Sumi Elsa John Fahd Al-Mulla |
| author_sort |
Hessa Al-Kandari |
| title |
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic |
| title_short |
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic |
| title_full |
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic |
| title_fullStr |
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic |
| title_full_unstemmed |
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic |
| title_sort |
identification of maturity-onset-diabetes of the young (mody) mutations in a country where diabetes is endemic |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/24dd291e9c70417eb4789f4dd5f8f7ac |
| work_keys_str_mv |
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1718377136162603008 |