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MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
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MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
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Journal Article
MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience
2023
Overview
Clinical characteristics of the study cohort and of all monogenic diabetes patients Characteristics All probands (n = 151) Probands with monogenic diabetes (n = 68) Patients with mutations in non-SD genes (n = 62) Patients with mutations in SD genes (n = 6) P values Age at diagnosis of diabetes (y) 14 (10–29) 12.5 (8–17.3) 14 (11–32) 0.31 Age at genetic diagnosis (y) 20 (12–39) 17.5 (11–33.5) 26.5 (14–57) 0.23 Diabetes duration (y) 2 (0–10) 3 (0–10.3) 8.5 (2.3–23.8) 0.25 Female (n) 85 41 5 BMI (Kg/m2) 21.8 (18.9–26.2), (n = 140) 21.2 (18.9–23.8), (n = 58) 21.5 (19–28.1) 0.34 Reporting parents with diabetes (n) 116 56 5 0.49 HbA1c (%) 6.2 (5.8–7.1) (n = 118) 6.1 (5.8–6.4), (n = 45) 8.6 (6.4–9.2), (n = 5) 0.01 Therapy (n) Diet only 77 40 0 AD 26 11 1 Insulin (± AD) 48 11 5 0.002 Data are presented as median value (25th–75th percentile). (n) number of patients with available data; (y) = years; AD: anti-diabetes drugs other than insulin P values are for comparison between patients with mutations in non-SD and SD genes Subjects positive to MD genetic test MD was confirmed in 68 probands (pick-up rate = 45%). List of mutations Gene DNA change Protein change Variant type (P/LP) Sequencing methods n of probands GCK c.107G > A p.Arg36Gln Missense (P) CES 1 GCK c.110 T > C p.Met37Thr Missense (LP) Sanger 1 GCK c.113A > C p.Gln38Pro Missense (LP) Sanger 1 GCK c.127C > T p.Arg43Cys Missense (P) CES 1 GCK c.175C > T p.Pro59Ser Missense (P) 1 by Sanger 1 by CES 2 GCK c.214G > A p.Gly72Arg Missense (P) Sanger 2 GCK c.218A > G p.Asp73Gly Missense (LP) Sanger 1 GCK c.316C > T p.Gln106* Nonsense (P) Sanger 1 GCK c.1019 + 2 T > C p.? Aberrant splicing (LP) tNGS 1 GCK§ c.545 T > C p.Val182Ala Missense (LP) Sanger 1 GCK c.556C > G p.Arg186Gly Missense (LP) Sanger 1 GCK c.562G > A p.Ala188Thr Missense (P) tNGS 1 GCK c.571C > T p.Arg191Thr Missense (P) 1 by Sanger 1 by CES 2 GCK c.667G > A p.Gly223Ser Missense (P) 3 by Sanger 1 by tNGS 1 by CES 5 GCK c.675C > G p.Ile225Met Missense (P) Sanger 1 GCK c.676G > A p.Val226Met Missense (P) Sanger 1 GCK c.766G > T p.Glu256* Nonsense (P) tNGS 1 GCK c.775G > A p.Ala259Thr Missense (P) Sanger 2 GCK c.781G > C p.Gly261Arg Missense (P) CES 1 GCK c.796C > G p.Leu266Val Missense (LP) Sanger 1 GCK c.867 T > A p.Tyr289* Nonsense (P) Sanger 1 GCK c.907C > T p.Arg303Trp Missense (P) tNGS 1 GCK c.955G > T p.Glu319* Nonsense (LP) Sanger 1 GCK c.971 T > C p.Leu324Pro Missense (LP) Sanger 1 GCK c.976A > C p.Thr326Pro Missense (LP) CES 1 GCK c.1116G > C p.Glu372Asp Missense (LP) tNGS 1 GCK c.1195G > T p.Glu399* Nonsense (P) Sanger 1 GCK c.1278_1286del p.Ser426_Arg428del In frame deletion (LP) CES 1 GCK c.1358C > T p.Ser453Leu Missense (P) CES 1 HNF1A§ c.351G > T p.Lys117Asn Missense (LP) Sanger 1 HNF1A c.392G > A p.Arg131Gln Missense (P) CES 1 HNF1A c.476G > A p.Arg159Gln Missense (P) tNGS 1 HNF1A c.508C > T p.Gln170* Nonsense (P) tNGS 1 HNF1A c.608G > A p.Arg203His Missense (P) tNGS 1 HNF1A c.617G > A p.Try206* Nonsense (P) tNGS 1 HNF1A c.686G > A Arg229Gln Missense (P) CES 1 HNF1A c.814C > T p.Arg272Cys Missense (P) tNGS 1 HNF1A§ c.850delG p.Asp284fs Frameshift (LP) tNGS 1 HNF1A c.864delG p.Pro291fs Frameshift (LP) 1 by Sanger 1 by tNGS 2 HNF1A c.1137delT p.Val380fs Frameshift (P) tNGS 1 HNF1A c.1340C > T p.Pro447Leu Missense (P) tNGS 1 HNF1A§ c.1375delC p.Leu459fs Frameshift (LP) CES 1 HNF1A c.1859C > T p.Thr620Ile Missense (LP) CES 2 HNF4A c.341G > A p.Arg114Gln Missense (P) tNGS 1 HNF4A c.340C > T p.Arg114Trp Missense (P) tNGS 1 HNF4A§ c.347G > C p.Ser116Thr Missense (LP) CES 1 HNF4A§ c.424C > T p.Gln142* Nonsense (LP) tNGS 1 HNF4A c.733C > A p.Arg245Ser Missense (LP) tNGS 1 HNF4A§ c.825delA p.Pro275fs Frameshift (LP) CES 1 HNF4A c.932G > A p.Arg311His Missense (LP) tNGS 1 ABCC8 c.4372G > A p.Ala1458Thr Missense (LP) CES 1 KCNJ11 c.185C > T p.Thr62Met Missense (LP) CES 1 WFS1 c.605A > G p.Glu202Gly Missense (LP) tNGS 1 WFS1 c.1240_1243T; c.2104G > A p.Val415del; p.Gly702Ser Inframe Deletion (LP); Missense (LP) CES 1 WFS1 c.1673G > A p.Arg558His Missense (LP) tNGS 1 WFS1 c.2099G > A p.Trp700* Nonsense (LP) CES 1 PPARG c.1273C > T p.Arg425Cys Missense (LP) CES 1 INSR c.3472C > T p.Arg1158Trp Missense (LP) CES 1 The following genes were sequenced by tNGS or CES: Clinical features of patients with mutations in SD genes The clinical features of probands with SD gene mutations were compared with those of patients carrying mutations in non-SD genes (Table 1). Age at diagnosis tended to be older in patients carrying SD gene mutations.
