Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes
To investigate the prevalence of variants within selected maturity-onset diabetes of the young (MODY)-genes among Algerian patients initially diagnosed with type 1 diabetes (T1D) or type 2 diabetes (T2D), yet presenting with a MODY-like phenotype. Eight unrelated patients with early-onset diabetes (...
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Veröffentlicht in: | Diabetes, metabolic syndrome and obesity metabolic syndrome and obesity, 2020-01, Vol.13, p.4829-4837 |
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Sprache: | eng |
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Zusammenfassung: | To investigate the prevalence of variants within selected maturity-onset diabetes of the young (MODY)-genes among Algerian patients initially diagnosed with type 1 diabetes (T1D) or type 2 diabetes (T2D), yet presenting with a MODY-like phenotype.
Eight unrelated patients with early-onset diabetes (before 30 years) and six relatives with diabetes were examined by targeted re-sequencing for variants in genes known to be involved in MODY (
). Clinical data for probands were retrieved from hospital records.
A total of 12 variants were identified, of which three were classified as pathogenic and one as a variant of uncertain clinical significance (VUS). Two of the pathogenic variants were found in
(p.Gly261Arg and p.Met210Lys, respectively) in one proband each and the remaining pathogenic variant was found in
(p.Gly76Cys) in a proband also carrying the VUS in
(p.Thr156Met).
Variants in known MODY-genes can be the cause of early-onset diabetes in Algerians diagnosed with T1D or T2D among patients presenting with a MODY-like phenotype; thus, genetic screening should be considered. |
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ISSN: | 1178-7007 1178-7007 |
DOI: | 10.2147/DMSO.S269251 |