ABCMdb

PMID: 23506826

Faletra F, Athanasakis E, Morgan A, Biarnes X, Fornasier F, Parini R, Furlan F, Boiani A, Maiorana A, Dionisi-Vici C, Giordano L, Burlina A, Ventura A, Gasparini P
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
Gene. 2013 May 25;521(1):160-5. doi: 10.1016/j.gene.2013.03.021. Epub 2013 Mar 16., [PubMed]

Sentences

No. Mutations Sentence Comment

83 ABCC8 p.Pro1562Ala ABCC8 p.Gly716Ser Novel mutations Four novel missense mutations (ABCC8: p.Gly716Ser, p.Pro1562Ala; HNF4A: p.Gly171Arg; GLUD1: Asn463Tyr) have been found. Login to comment 111 ABCC8 p.Gly716Val Interestingly, altered responses to ATP have been reported when the same residue is replaced by a Valine (p.Gly716Val) (Thomas et al., 1996). Login to comment 119 ABCC8 p.Glu1506Lys ABCC8 p.Arg1493Trp ABCC8 p.Pro1562Ala ABCC8 p.Gly716Ser HI-group mutations identified Patient E/I nt changea aa changea Zygosity/inheritance References (A) Genetic variants found in ABCC8, KCNJ11, HNF4A and GCK genes from HI-group ABCC8 (NM_000352.3) 21 E 10 c.1580_1581dup p.Lys528Glyfs*4 Heterozygosity/paternal Present study 29 E 10 c.1617T>A p.Tyr539* Heterozygosity/ND Present study 24 E 16 c.2146G>A p.Gly716Ser Heterozygosity/ND Present study 13 E 23 c.2780G>A p.Trp927* Heterozygosity/ND Present studyb 20 E 24 c.2857C>T p.Gln953* Heterozygosity/ND Nestorowicz et al. (1998) 20 I 32 c.3989-2A>G Aberrant splicing Heterozygosity/ND Present study 19 E 35 c.4278_4280dup p.Gln1426_Asp1427insGlu Heterozygosity/ND Present study 15,25 E 36 c.4356delinsTA p.Glu1452Aspfs*61 Heterozygosity/paternal Present study 8 E 37 c.4477C>T p.Arg1493Trp Heterozygosity/ND Verkarre et al. (1998) 3 E 37 c.4516G>A p.Glu1506Lys Heterozygosity/maternal Huopio et al. (2000) 28 E 39 c.4684C>G p.Pro1562Ala Heterozygosity/ND Present study KCNJ11 (NM_000525.3) 7 E 1 c.151G>T p.Glu51* Heterozygosity/ND Present study 6 E 1 c.1017G>T p.Val339Val Heterozygosity/paternal Present study HNF4A (NM_000457.3) 27 E 5 c.511G>A p.Gly171Arg Heterozygosity/maternal Present study GCK (NM_000162.3) 6 E 1 c.31G>A p.Ala11Thr Heterozygosity/paternal Chiu et al. (1993) 12 E 6 c.600G>A p.Val200Val Heterozygosity/ND Present study (B) Genetic variants found in GLUD1 gene from HI/HA-group GLUD1 (NM_005271.3) 33 E 7 c.943C>T p.His315Tyr Heterozygosity/de novo Halldorsdottir et al. (2000) 35 E 7 c.955T>C p.Tyr319His Heterozygosity/ND Stanley (2004) 30 E 10 c.1387A>T p.Asn463Tyr Heterozygosity/ND Present study 36 E 11 c.1493C>T p.Ser498Leu Heterozygosity/ND Stanley et al. (1998) 31 E 12 c.1498G>A p.Ala500Thr Heterozygosity/maternal Stanley et al. (2000) E = exon; I = intron.; ND = not determined. Login to comment