Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic.
Sci Rep
; 11(1): 16060, 2021 08 09.
Article
in En
| MEDLINE
| ID: mdl-34373539
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Diabetes Mellitus, Type 2
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
/
Male
Language:
En
Journal:
Sci Rep
Year:
2021
Document type:
Article
Affiliation country:
Kuwait