A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype

被引：9

作者：

Costantini, Silvia ^{[1
]}

Prandini, Paola ^{[2
]}

Corradi, Massimiliano ^{[1
]}

Pasquali, Alessandra ^{[2
]}

Contreas, Giovanna ^{[1
]}

Pignatti, Pier Franco ^{[2
]}

Pinelli, Leonardo ^{[1
]}

Trabetti, Elisabetta ^{[2
]}

Maffeis, Claudio ^{[1
]}

机构：

[1] ULSS 20, Reg Ctr Pediat Diabet, I-37134 Verona, Italy

[2] Univ Verona, Dept Life & Reprod Sci, Sect Pediat, I-37100 Verona, Italy

来源：

DIABETES RESEARCH AND CLINICAL PRACTICE | 2011年 / 92卷 / 01期

关键词：

MODY; GCK; Synonymous mutation; RT-PCR; Cryptic splice site; GLUCOKINASE; YOUNG; SITE; MUTATIONS; DEFECTS;

D O I：

10.1016/j.diabres.2011.01.014

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

GCK gene analysis in an Italian MODY patient revealed a novel synonymous substitution in exon 4 (c. 459T > G; p.Pro153Pro) resulting in an aberrant transcript lacking the last eight codons of the same exon. Our findings emphazise the importance of not underestimating synonymous variations when screening for disease-causing mutations. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

引用

页码：E23 / E26

页数：4

共 16 条

[1] Missed threads The impact of pre-mRNA splicing defects on clinical practice [J].

Baralle, Diana ;

Lucassen, Anneke ;

Buratti, Emanuele .

EMBO REPORTS, 2009, 10 (08) :810-816

[2] Listening to silence and understanding nonsense: Exonic mutations that affect splicing [J].

Cartegni, L ;

Chew, SL ;

Krainer, AR .

NATURE REVIEWS GENETICS, 2002, 3 (04) :285-298

[3] Human Splicing Finder: an online bioinformatics tool to predict splicing signals [J].

Desmet, Francois-Olivier ;

Hamroun, Dalil ;

Lalande, Marine ;

Collod-Beroud, Gwenaelle ;

Claustres, Mireille ;

Beroud, Christophe .

NUCLEIC ACIDS RESEARCH, 2009, 37 (09)

[4] Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping [J].

Divina, Petr ;

Kvitkovicova, Andrea ;

Buratti, Emanuele ;

Vorechovsky, Igor .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (06) :759-765

[5] Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young [J].

Ellard, S. ;

Bellanne-Chantelot, C. ;

Hattersley, A. T. .

DIABETOLOGIA, 2008, 51 (04) :546-553

[6] Mechanisms of disease: Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. [J].

Fajans, SS ;

Bell, GI ;

Polonsky, KS .

NEW ENGLAND JOURNAL OF MEDICINE, 2001, 345 (13) :971-980

[7] FAMILIAL HYPERGLYCEMIA DUE TO MUTATIONS IN GLUCOKINASE - DEFINITION OF A SUBTYPE OF DIABETES-MELLITUS [J].

FROGUEL, P ;

ZOUALI, H ;

VIONNET, N ;

VELHO, G ;

VAXILLAIRE, M ;

SUN, F ;

LESAGE, S ;

STOFFEL, M ;

TAKEDA, J ;

PASSA, P ;

PERMUTT, MA ;

BECKMANN, JS ;

BELL, GI ;

COHEN, D .

NEW ENGLAND JOURNAL OF MEDICINE, 1993, 328 (10) :697-702

[8] Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients [J].

Garin, Intza ;

Rica, Itxaso ;

Estalella, Itziar ;

Oyarzabal, Mirentxu ;

Rodriguez-Rigual, Mercedes ;

Pedro, Jose Ignacio San ;

Perez-Nanclares, Gustavo ;

Fernandez-Rebollo, Eduardo ;

Busturia, Maria Angeles ;

Castano, Luis ;

de Nanclares, Guiomar Perez .

CLINICAL ENDOCRINOLOGY, 2008, 68 (06) :873-878

[9] Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase [J].

Kamata, K ;

Mitsuya, M ;

Nishimura, T ;

Eiki, JI ;

Nagata, Y .

STRUCTURE, 2004, 12 (03) :429-438

[10] Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia: A multicenter Italian study of 172 families [J].

Lorini, Renata ;

Klersy, Catherine ;

d'Annunzio, Giuseppe ;

Massa, Ornella ;

Minuto, Nicola ;

Iafusco, Dario ;

Bellanne-Chantelot, Christine ;

Frongia, Anna Paola ;

Toni, Sonia ;

Meschi, Franco ;

Cerutti, Franco ;

Barbetti, Fabrzio .

DIABETES CARE, 2009, 32 (10) :1864-1866

← 1 2 →