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Case Reports
. 2019 Nov 26;57(12):e306-e310.
doi: 10.1515/cclm-2019-0137.

Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient

Fernanda Iafusco  1 , Paola De Sanctis  1 , Daniele Pirozzi  1 , Silvana Capone  1   2 , Barbara Lombardo  1   2 , Antonella Gambale  1   2 , Santino Confetto  3 , Angela Zanfardino  3 , Achille Iolascon  1   2 , Lucio Pastore  1   2 , Dario Iafusco  3 , Nadia Tinto  1   2
Affiliations
Case Reports

Molecular diagnosis of MODY3 permitted to reveal a de novo 12q24.31 deletion and to explain a complex phenotype in a young diabetic patient

Fernanda Iafusco et al. Clin Chem Lab Med. .
No abstract available

Keywords: HNF1A; MODY3; deletion 12q24.31.

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References

    1. Delvecchio M, Mozzillo E, Salzano G, Iafusco D, Frontino G, Patera PI, et al. Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007 to 2012. J Clin Endocrinol Metab 2017;102:1826–34.
    1. Delvecchio M, Salzano G, Bonura C, Cauvin V, Cherubini V, d’Annunzio G, et al. Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (ISPED). Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing? Acta Diabetol 2018;55:981–3.
    1. Tinto N, Zagari A, Capuano M, De Simone A, Capobianco V, Daniele G, et al. Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy. PLoS One 2008;3:e1870.
    1. Nunziato M, Starnone F, Lombardo B, Pensabene M, Condello C, Verdesca F, et al. Fast detection of a BRCA2 large genomic duplication by next generation sequencing as a single procedure: a case report. Int J Mol Sci 2017;18.
    1. Baple E, Palmer R, Hennekam RC. A microdeletion at 12q24.31 can mimic Beckwith-Wiedemann syndrome neonatally. Mol Syndromol 2010;1:42–5.

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