Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations.
Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.
Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Renata P
RP
Dotto
Universidade do Estado da Bahia (UNEB), Salvador, Brazil.
Fernando M A
FM
Giuffrida
Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Luciana
L
Franco
Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Andreia L G
AL
Mathez
Endocrinology Unit - Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Leticia S
LS
Weinert
Endocrinology Unit - Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Sandra P
SP
Silveiro
Diabetes Center, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Joao R
JR
Sa
Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. Electronic address: afreis2005@gmail.com.
Andre F
AF
Reis
Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Magnus R
MR
Dias-da-Silva
D000328:Adult; D001938:Brazil; D016022:Case-Control Studies; D002493:Central Nervous System Diseases; D003743:Dental Enamel / Q000002:abnormalities; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005941:Glucokinase / Q000235:genetics; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D033162:Incidental Findings; D052177:Kidney Diseases, Cystic; D008297:Male; D010641:Phenotype
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D005941:Glucokinase
Diabetes mellitus; HNF1B; MLPA; MODY; Mutation