Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes

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Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes. / Bouldjennet, Faiza; Gjesing, Anette P.; Azzouz, Malha; Abderrahman, Samir Ait; El Guecier, Amina; Ali, Said; Oudjit, Brahim; Mennadi-Lacete, Farida; Yargui, Lyece; Boudiba, Aissa; Chibane, Ahcene; Touil-Boukoffa, Chafia; Hansen, Torben; Raache, Rachida.

In: Diabetes, Metabolic Syndrome and Obesity, Vol. 13, 2020, p. 4829-4837.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Bouldjennet, F, Gjesing, AP, Azzouz, M, Abderrahman, SA, El Guecier, A, Ali, S, Oudjit, B, Mennadi-Lacete, F, Yargui, L, Boudiba, A, Chibane, A, Touil-Boukoffa, C, Hansen, T & Raache, R 2020, 'Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes', Diabetes, Metabolic Syndrome and Obesity, vol. 13, pp. 4829-4837. https://doi.org/10.2147/DMSO.S269251

APA

Bouldjennet, F., Gjesing, A. P., Azzouz, M., Abderrahman, S. A., El Guecier, A., Ali, S., Oudjit, B., Mennadi-Lacete, F., Yargui, L., Boudiba, A., Chibane, A., Touil-Boukoffa, C., Hansen, T., & Raache, R. (2020). Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes. Diabetes, Metabolic Syndrome and Obesity, 13, 4829-4837. https://doi.org/10.2147/DMSO.S269251

Vancouver

Bouldjennet F, Gjesing AP, Azzouz M, Abderrahman SA, El Guecier A, Ali S et al. Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes. Diabetes, Metabolic Syndrome and Obesity. 2020;13:4829-4837. https://doi.org/10.2147/DMSO.S269251

Author

Bouldjennet, Faiza ; Gjesing, Anette P. ; Azzouz, Malha ; Abderrahman, Samir Ait ; El Guecier, Amina ; Ali, Said ; Oudjit, Brahim ; Mennadi-Lacete, Farida ; Yargui, Lyece ; Boudiba, Aissa ; Chibane, Ahcene ; Touil-Boukoffa, Chafia ; Hansen, Torben ; Raache, Rachida. / Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes. In: Diabetes, Metabolic Syndrome and Obesity. 2020 ; Vol. 13. pp. 4829-4837.

Bibtex

@article{666cd1734d374a0d85e35a8b139c4363,
title = "Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes",
abstract = "Aim: 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.Methods: 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 (HNF1A, GCK, HNF4A, HNF1B, INS, ABCC8, KCNJ1). Clinical data for probands were retrieved from hospital records.Results: 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 GCK (p.Gly261Arg and p.Met210Lys, respectively) in one proband each and the remaining pathogenic variant was found in HNF1B (p.Gly76Cys) in a proband also carrying the VUS in HNF1A (p.Thr156Met).Conclusion: 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.",
keywords = "MODY, type 1 diabetes, early-onset, monogenic diabetes, genes, HUMAN GLUCOKINASE GENE, CLINICAL CHARACTERISTICS, GCK-MODY, MUTATIONS, DIAGNOSIS, PREVALENCE, MELLITUS, CHILDREN, VARIANTS, FAMILIES",
author = "Faiza Bouldjennet and Gjesing, {Anette P.} and Malha Azzouz and Abderrahman, {Samir Ait} and {El Guecier}, Amina and Said Ali and Brahim Oudjit and Farida Mennadi-Lacete and Lyece Yargui and Aissa Boudiba and Ahcene Chibane and Chafia Touil-Boukoffa and Torben Hansen and Rachida Raache",
year = "2020",
doi = "10.2147/DMSO.S269251",
language = "English",
volume = "13",
pages = "4829--4837",
journal = "Diabetes, Metabolic Syndrome and Obesity",
issn = "1178-7007",
publisher = "Dove Medical Press Ltd",

}

RIS

TY - JOUR

T1 - Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes

AU - Bouldjennet, Faiza

AU - Gjesing, Anette P.

AU - Azzouz, Malha

AU - Abderrahman, Samir Ait

AU - El Guecier, Amina

AU - Ali, Said

AU - Oudjit, Brahim

AU - Mennadi-Lacete, Farida

AU - Yargui, Lyece

AU - Boudiba, Aissa

AU - Chibane, Ahcene

AU - Touil-Boukoffa, Chafia

AU - Hansen, Torben

AU - Raache, Rachida

PY - 2020

Y1 - 2020

N2 - Aim: 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.Methods: 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 (HNF1A, GCK, HNF4A, HNF1B, INS, ABCC8, KCNJ1). Clinical data for probands were retrieved from hospital records.Results: 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 GCK (p.Gly261Arg and p.Met210Lys, respectively) in one proband each and the remaining pathogenic variant was found in HNF1B (p.Gly76Cys) in a proband also carrying the VUS in HNF1A (p.Thr156Met).Conclusion: 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.

AB - Aim: 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.Methods: 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 (HNF1A, GCK, HNF4A, HNF1B, INS, ABCC8, KCNJ1). Clinical data for probands were retrieved from hospital records.Results: 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 GCK (p.Gly261Arg and p.Met210Lys, respectively) in one proband each and the remaining pathogenic variant was found in HNF1B (p.Gly76Cys) in a proband also carrying the VUS in HNF1A (p.Thr156Met).Conclusion: 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.

KW - MODY

KW - type 1 diabetes

KW - early-onset

KW - monogenic diabetes

KW - genes

KW - HUMAN GLUCOKINASE GENE

KW - CLINICAL CHARACTERISTICS

KW - GCK-MODY

KW - MUTATIONS

KW - DIAGNOSIS

KW - PREVALENCE

KW - MELLITUS

KW - CHILDREN

KW - VARIANTS

KW - FAMILIES

U2 - 10.2147/DMSO.S269251

DO - 10.2147/DMSO.S269251

M3 - Journal article

C2 - 33324081

VL - 13

SP - 4829

EP - 4837

JO - Diabetes, Metabolic Syndrome and Obesity

JF - Diabetes, Metabolic Syndrome and Obesity

SN - 1178-7007

ER -

ID: 254998132