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IDENTIFICATION OF VARIANTS RESPONSIBLE FOR MONOGENIC FORMS OF DIABETES IN BRAZIL
Doença mitocondrial
Diagnóstico genético
Distúrbios raros
Variantes
Author
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Abstract
Monogenic forms of diabetes mellitus may affect a significant number of patients of this
disease, and it is an important molecular cause to be investigated. However, studies of the
genetic causes of monogenic diabetes, especially in populations with mixed ethnic
backgrounds, such as the one in Brazil, are scarce. The aim of this study was to
screen several genes associated with monogenic diabetes in fifty-seven Brazilian
patients with recurrence of the disease in their families and thirty-four relatives. Inclusion
criteria were: Age of onset ≤ 40 years old, BMI < 30 kg/m², at least two affected
generations and negative anti-GAD and anti-IA2 antibodies. MODY genes HNF4A,
GCK, HNF1A, HNF1B, NEUROD1, KLF11, PAX4, INS, KCNJ11, and MT-TL1 were
sequenced by Sanger sequencing. We identified a total of 20 patients with variants, 13
GCK-MODY, four HNF1A-MODY, and one variant in each of the following genes, HNF4A,
HNF1B and MT-TL1. Segregation analysis was performed in 13 families. Four variants
were novel, two in GCK (p.(Met115Val) [c.343A>G] and p.(Asp365GlufsTer95)
[c.1094_1095insGCGA]) and two in HNF1A (p.(Tyr163Ter) [c.489C>G] and
p.(Val380CysfsTer39) [c.1136_1137insC]). Here we highlight the importance of
screening for monogenic diabetes in admixed populations.
Keywords in Portuguese
Diabetes monogênicoDoença mitocondrial
Diagnóstico genético
Distúrbios raros
Variantes
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