HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals.
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in at least seven genes can cause MODY. In the present study we investigated the relative prevalence of GCK (glucokinase) and HNF1alpha (hepatocyte nuclear factor 1alpha) mutations, the more frequent causes of MODY, in 13 South-Brazilian families with multiple cases of diabetes consistent with MODY. Heterozygous variants in GCK and HNF1alpha genes were observed respectively in one (7.7%), and six (46.2%) families. The six HNF1alpha variants are likely to cause diabetes in the families where they were observed. However, we could not ascertain whether the GCK Gly117Ser variant found in one family is a causal mutation. In conclusion, we have confirmed in a South-Brazilian population that HNF1alpha mutations are a common cause of monogenic diabetes in adults selected with strict clinical diagnostic criteria.
Maraschin
Jorge de Faria
Jde F
Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Kannengiesser
Caroline
C
Murussi
Nádia
N
Campagnolo
Nicole
N
Canani
Luís Henrique
LH
Gross
Jorge Luiz
JL
Velho
Gilberto
G
Grandchamp
Bernard
B
Silveiro
Sandra Pinho
SP
D000328:Adult; D001938:Brazil; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D015995:Prevalence; D055815:Young Adult
D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase