Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.
JOP
; 11(1): 14-7, 2010 Jan 08.
Article
em En
| MEDLINE
| ID: mdl-20065546
ABSTRACT
CONTEXT Approximately 39% of cases with permanent neonatal diabetes (PNDM) and about 11% with maturity onset diabetes of the young (MODY) have an unknown genetic aetiology. Many of the known genes causing MODY and PNDM were identified as being critical for beta cell function before their identification as a cause of monogenic diabetes. OBJECTIVE:
We used nominations from the EU beta cell consortium EURODIA project partners to guide gene candidacy.SUBJECTS:
Seventeen cases with permanent neonatal diabetes and 8 cases with maturity onset diabetes of the young. MAIN OUTCOMEMEASURES:
The beta cell experts within the EURODIA consortium were asked to nominate 3 "gold", 3 "silver" and 4 "bronze" genes based on biological or genetic grounds. We sequenced twelve candidate genes from the list based on evidence for candidacy.RESULTS:
Sequencing ISL1, LMX1A, MAFA, NGN3, NKX2.2, NKX6.1, PAX4, PAX6, SOX2, SREBF1, SYT9 and UCP2 did not identify any pathogenic mutations.CONCLUSION:
Further work is needed to identify novel causes of permanent neonatal diabetes and maturity onset diabetes of the young utilising genetic approaches as well as further candidate genes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diabetes Mellitus
/
Células Secretoras de Insulina
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
JOP
Assunto da revista:
ENDOCRINOLOGIA
/
GASTROENTEROLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Reino Unido