Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica: caso clínico / Finding of a new mutation in a Chilean family with monogenic diabetes: report of one case
Rev. méd. Chile
; 146(7): 929-932, jul. 2018. tab, graf
Article
em Es
| LILACS
| ID: biblio-961480
Biblioteca responsável:
CL1.1
ABSTRACT
We report a 21 years old woman, without offspring, with diabetes mellitus diagnosed at 17 years of age, without ketosis or weight loss. Her body mass index was 18 kg/m2. Her C peptide was normal (2.3 ng/ml) and diabetes mellitus type 1 autoantibodies were negative. A monogenic diabetes Maturity Onset Diabetes of the Young (MODY) was proposed. Her family study disclosed a diabetic father and a brother with altered fasting glucose levels. The University of Exeter score for MODY yielded a 75.5% probability of MODY2. In the genetic-molecular study of the glucokinase gene (MODY2), the patient had a mutation at position 1343 of exon 10, corresponding to a heterozygous substitution of guanine by adenine (1343 G >A). The same mutation was found in her father and brother. This mutation is different from those previously described in the literature. The described change determines that a glycine is replaced by aspartic at amino acid 448 of the enzyme (non-synonymous substitution). The diagnosis of MODY2 was therefore confirmed in the patient and her father. The mutation was inherited by paternal line.
Palavras-chave
Texto completo:
1
Índice:
LILACS
Assunto principal:
Diabetes Mellitus Tipo 2
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
País/Região como assunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. méd. Chile
Assunto da revista:
MEDICINA
Ano de publicação:
2018
Tipo de documento:
Article