An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00592-023-02171-3.pdf
Reference5 articles.
1. Anık A, Çatlı G, Abacı A, Böber E (2015) Maturity-onset diabetes of the young (MODY): an update. J Pediatr Endocrinol Metab 28(3–4):251–263. https://doi.org/10.1515/jpem-2014-0384
2. Tinto N, Zagari A, Capuano M, De Simone A, Capobianco V, Daniele G, Giugliano M, Spadaro R, Franzese A, Sacchetti L (2008) Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from south Italy. PLoS ONE 3:e1870. https://doi.org/10.1371/journal.pone.0001870
3. Bellanné-Chantelot C, Carette C, Riveline JP, Valéro R, Gautier JF, Larger E, Reznik Y, Ducluzeau PH, Sola A, Hartemann-Heurtier A, Lecomte P, Chaillous L, Laloi-Michelin M, Wilhem JM, Cuny P, Duron F, Guerci B, Jeandidier N, Mosnier-Pudar H, Assayag M, Dubois-Laforgue D, Velho G, Timsit J (2008) The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 57:503–508. https://doi.org/10.2337/db07-0859
4. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30
5. Iafusco F, Maione G, Mazzaccara C, Di Candia F, Mozzillo E, Franzese A, Tinto N (2021) Analysis revealed digenic heterozygous GCK and HNF1A variants in a child with mild hyperglycemia: a case report. Diagnostics (Basel) 11:1164. https://doi.org/10.3390/diagnostics11071164
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