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Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes.
Pezzilli, Serena; Ludovico, Ornella; Biagini, Tommaso; Mercuri, Luana; Alberico, Federica; Lauricella, Eleonora; Dallali, Hamza; Capocefalo, Daniele; Carella, Massimo; Miccinilli, Elide; Piscitelli, Pamela; Scarale, Maria Giovanna; Mazza, Tommaso; Trischitta, Vincenzo; Prudente, Sabrina.
Afiliação
  • Pezzilli S; Department of Experimental Medicine, Sapienza University, Rome, Italy.
  • Ludovico O; Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Biagini T; Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Mercuri L; Unit of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Alberico F; Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Lauricella E; Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Dallali H; Department of Experimental Medicine, Sapienza University, Rome, Italy.
  • Capocefalo D; Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Carella M; Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Miccinilli E; Unit of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Piscitelli P; Unit of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Scarale MG; Research Unit of Metabolic and Cardiovascular Diseases, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Mazza T; Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Trischitta V; Unit of Biostatistics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
  • Prudente S; Unit of Bioinformatics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Diabetes ; 67(1): 137-145, 2018 01.
Article em En | MEDLINE | ID: mdl-28993341
Multigenerational diabetes of adulthood is a mostly overlooked entity, simplistically lumped into the large pool of type 2 diabetes. The general aim of our research in the past few years is to unravel the genetic causes of this form of diabetes. Identifying among families with multigenerational diabetes those who carry mutations in known monogenic diabetes genes is the first step to then allow us to concentrate on remaining pedigrees in which to unravel new diabetes genes. Targeted next-generation sequencing of 27 monogenic diabetes genes was carried out in 55 family probands and identified mutations verified among their relatives by Sanger sequencing. Nine variants (in eight probands) survived our filtering/prioritization strategy. After likelihood of causality assessment by established guidelines, six variants were classified as "pathogenetic/likely pathogenetic" and two as "of uncertain significance." Combining present results with our previous data on the six genes causing the most common forms of maturity-onset diabetes of the young allows us to infer that 23.6% of families with multigenerational diabetes of adulthood carry mutations in known monogenic diabetes genes. Our findings indicate that the genetic background of hyperglycemia is unrecognized in the vast majority of families with multigenerational diabetes of adulthood. These families now become the object of further research aimed at unraveling new diabetes genes.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Tipo 2 / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diabetes Mellitus Tipo 2 / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article