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

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 Onse...

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Autores principales:	Estica R.,Marcos, Seelenfreund H.,Daniela, Durruty A.,Pilar, Briones B.,Gloria
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2018
Materias:	Diabetes Mellitus, Type 2 Glucokinase Mutation, Missense
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000700929
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id	oai:scielo:S0034-98872018000700929
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spelling	oai:scielo:S0034-988720180007009292018-09-26Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínicoEstica R.,MarcosSeelenfreund H.,DanielaDurruty A.,PilarBriones B.,Gloria Diabetes Mellitus, Type 2 Glucokinase Mutation, Missense 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.146 n.7 20182018-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000700929es10.4067/s0034-98872018000700929
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Diabetes Mellitus, Type 2 Glucokinase Mutation, Missense
spellingShingle	Diabetes Mellitus, Type 2 Glucokinase Mutation, Missense Estica R.,Marcos Seelenfreund H.,Daniela Durruty A.,Pilar Briones B.,Gloria Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico
description	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.
author	Estica R.,Marcos Seelenfreund H.,Daniela Durruty A.,Pilar Briones B.,Gloria
author_facet	Estica R.,Marcos Seelenfreund H.,Daniela Durruty A.,Pilar Briones B.,Gloria
author_sort	Estica R.,Marcos
title	Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico
title_short	Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico
title_full	Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico
title_fullStr	Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico
title_full_unstemmed	Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico
title_sort	hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2018
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000700929
work_keys_str_mv	AT esticarmarcos hallazgodeunanuevamutacionenunafamiliachilenacondiabetesmonogenicacasoclinico AT seelenfreundhdaniela hallazgodeunanuevamutacionenunafamiliachilenacondiabetesmonogenicacasoclinico AT durrutyapilar hallazgodeunanuevamutacionenunafamiliachilenacondiabetesmonogenicacasoclinico AT brionesbgloria hallazgodeunanuevamutacionenunafamiliachilenacondiabetesmonogenicacasoclinico
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Hallazgo de una nueva mutación en una familia chilena con diabetes monogénica. Caso clínico

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