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FINDING OF A NEW MUTATION IN A CHILEAN FAMILY WITH MONOGENIC DIABETES. REPORT OF ONE CASE.

Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico.

dc.contributoren-US
dc.contributores-ES
dc.creatorEstica R, Marcos; Unidad de Diabetes Hospital San Juan de Dios, Santiago de Chile
dc.creatorSeelenfreund H, Daniela
dc.creatorDurruty A, Pilar; Unidad de Diabetes,Hospital San Juan De Dios, Santiago de Chile Sección Endocrinologi?a y Diabetes. Hospital Cli?nico Universidad de Chile. Santiago, Chile.
dc.creatorBriones B, Gloria; Unidad de Diabetes, Hospital San Juan de Dios, Santiago de Chile
dc.date2018-07-06
dc.date.accessioned2019-11-11T18:27:02Z
dc.date.available2019-11-11T18:27:02Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/6647
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/110963
dc.descriptionWe 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.en-US
dc.descriptionWe 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.es-ES
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dc.languagespa
dc.publisherRevista Médica de Chilees-ES
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dc.sourceRevista Médica de Chile; Vol. 146, núm. 7 (2018): JULIO 2018es-ES
dc.source0034-9887
dc.subjectDiabetes Mellitus, Type 2; Glucokinase; Mutation, Missenseen-US
dc.subjectDiabetes Mellitus, Type 2; Glucokinase; Mutation, Missensees-ES
dc.titleFINDING OF A NEW MUTATION IN A CHILEAN FAMILY WITH MONOGENIC DIABETES. REPORT OF ONE CASE.en-US
dc.titleHallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico.es-ES
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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