title: Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.
abstract: Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families.
authors.affiliation: Endocrinology Unit-Hospital de Clínicas de Porto Alegre, Postgraduate Fellowship Program in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
authors.forename: Letícia S
authors.initials: LS
authors.lastname: Weinert
authors.affiliation: Endocrinology Unit-Hospital de Clínicas de Porto Alegre, Postgraduate Fellowship Program in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
authors.forename: Sandra P
authors.initials: SP
authors.lastname: Silveiro
authors.affiliation: Centro de Endocrinologia do Estado da Bahia (CEDEBA), Salvador, Brazil; Universidade do Estado da Bahia (UNEB), Salvador, Brazil.
authors.forename: Fernando M A
authors.initials: FM
authors.lastname: Giuffrida
authors.affiliation: Endocrinology Unit-Hospital de Clínicas de Porto Alegre, Postgraduate Fellowship Program in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
authors.forename: Vivian T
authors.initials: VT
authors.lastname: Cunha
authors.affiliation: Centro de Endocrinologia do Estado da Bahia (CEDEBA), Salvador, Brazil.
authors.forename: Caroline
authors.initials: C
authors.lastname: Bulcão
authors.affiliation: Pediatric Endocrinology Unit, Santa Casa de Misericórdia, São Paulo, Brazil.
authors.forename: Luis Eduardo
authors.initials: LE
authors.lastname: Calliari
authors.affiliation: Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo (USP), Brazil.
authors.forename: Thais
authors.initials: T
authors.lastname: Della Manna
authors.affiliation: Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil.
authors.forename: Ilda S
authors.initials: IS
authors.lastname: Kunii
authors.affiliation: Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil.
authors.forename: Renata P
authors.initials: RP
authors.lastname: Dotto
authors.affiliation: Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil.
authors.forename: Magnus R
authors.initials: MR
authors.lastname: Dias-da-Silva
authors.affiliation: Laboratory of Molecular and Translacional Endocrinology, Universidade Federal de São Paulo (UNIFESP), Brazil; Diabetes Center, Universidade Federal de São Paulo (UNIFESP), Brazil. Electronic address: andrefreis@terra.com.br.
authors.forename: André F
authors.initials: AF
authors.lastname: Reis
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics* / Q000378:metabolism; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D006943:Hyperglycemia / Q000235:genetics; D015994:Incidence; D007223:Infant; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha; D004247:DNA; D005941:Glucokinase
keywords: Glucokinase; HNF1A; Maturity-onset diabetes of the young (MODY); Monogenic diabetes