Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations

被引：9

作者：

Dotto, Renata P. ^{[1
]}

Giuffrida, Fernando M. A. ^{[2
]}

Franco, Luciana ^{[1
]}

Mathez, Andreia L. G. ^{[1
]}

Weinert, Leticia S. ^{[3
]}

Silveiro, Sandra P. ^{[3
]}

Sa, Joao R. ^{[4
]}

Reis, Andre F. ^{[1
]}

Dias-da-Silva, Magnus R. ^{[1
]}

机构：

[1] Univ Fed Sao Paulo UNIFESP, Lab Mol & Translat Endocrinol, BR-04022001 Sao Paulo, SP, Brazil

[2] Univ Estado Bahia UNEB, Salvador, BA, Brazil

[3] Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Endocrinol Unit, Porto Alegre, RS, Brazil

[4] Univ Fed Sao Paulo UNIFESP, Ctr Diabet, R Estado Israel 639 Vila Mariana, BR-04022001 Sao Paulo, SP, Brazil

来源：

DIABETES RESEARCH AND CLINICAL PRACTICE | 2016年 / 116卷

基金：

巴西圣保罗研究基金会;

关键词：

MODY; Diabetes mellitus; MLPA; HNF1B; Mutation; HEPATOCYTE NUCLEAR FACTOR-1-BETA; SELECT PATIENTS; YOUNG TYPE-5; DYSFUNCTION; SCORE; TOOL;

D O I：

10.1016/j.diabres.2016.04.035

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

引用

页码：100 / 104

页数：5

共 19 条

[1] Clinical spectrum associated with hepatocyte nuclear factor-1β mutations [J].

Bellanné-Chantelot, C ;

Chauveau, D ;

Gautier, JF ;

Dubois-Laforgue, D ;

Clauin, S ;

Beaufils, S ;

Wilhelm, JM ;

Boitard, C ;

Noël, LH ;

Velho, G ;

Timsit, J .

ANNALS OF INTERNAL MEDICINE, 2004, 140 (07) :510-517

[2] Large genomic Rearrangements in the hepatocyte nuclear factor-1β (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5 [J].

Bellanné-Chantelot, C ;

Clauin, S ;

Chauveau, D ;

Collin, P ;

Daumont, M ;

Douillard, C ;

Dubois-Laforgue, D ;

Dusselier, L ;

Gautier, JF ;

Jadoul, M ;

Laloi-Michelin, M ;

Jacquesson, L ;

Larger, E ;

Louis, J ;

Nicolino, M ;

Subra, JF ;

Wilhem, JM ;

Young, J ;

Velho, G ;

Timsit, J .

DIABETES, 2005, 54 (11) :3126-3132

[3] Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene [J].

Bonnefond, Amelie ;

Philippe, Julien ;

Durand, Emmanuelle ;

Dechaume, Aurelie ;

Huyvaert, Marlene ;

Montagne, Louise ;

Marre, Michel ;

Balkau, Beverley ;

Fajardy, Isabelle ;

Vambergue, Anne ;

Vatin, Vincent ;

Delplanque, Jerome ;

Le Guilcher, David ;

De Graeve, Franck ;

Lecoeur, Cecile ;

Sand, Olivier ;

Vaxillaire, Martine ;

Froguel, Philippe .

PLOS ONE, 2012, 7 (06)

[4] Mutations at the BLK locus linked to maturity onset diabetes of the young and β-cell dysfunction [J].

Borowiec, Maciej ;

Liew, Chong W. ;

Thompson, Ryan ;

Boonyasrisawat, Watip ;

Hu, Jiang ;

Mlynarski, Wojciech M. ;

El Khattabi, Ilham ;

Kim, Sung-Hoon ;

Marselli, Lorella ;

Rich, Stephen S. ;

Krolewski, Andrzej S. ;

Bonner-Weir, Susan ;

Sharma, Arun ;

Sale, Michele ;

Mychaleckyj, Josyf C. ;

Kulkarni, Rohit N. ;

Doria, Alessandro .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (34) :14460-14465

[5] Heterozygous ABCC8 mutations are a cause of MODY [J].

Bowman, P. ;

Flanagan, S. E. ;

Edghill, E. L. ;

Damhuis, A. ;

Shepherd, M. H. ;

Paisey, R. ;

Hattersley, A. T. ;

Ellard, S. .

DIABETOLOGIA, 2012, 55 (01) :123-127

[6] Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing [J].

Clissold, Rhian ;

Shields, Beverley ;

Ellard, Sian ;

Hattersley, Andrew ;

Bingham, Coralie .

NEPHRON, 2015, 130 (02) :134-140

[7] Mutations in hepatocyte nuclear factor-1β and their related phenotypes [J].

Edghill, EL ;

Bingham, C ;

Ellard, S ;

Hattersley, AT .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (01) :84-90

[8] 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

[9] The HNF1B score is a simple tool to select patients for HNF1B gene analysis [J].

Faguer, Stanislas ;

Chassaing, Nicolas ;

Bandin, Flavio ;

Prouheze, Cathie ;

Garnier, Arnaud ;

Casemayou, Audrey ;

Huart, Antoine ;

Schanstra, Joost P. ;

Calvas, Patrick ;

Decramer, Stephane ;

Chauveau, Dominique .

KIDNEY INTERNATIONAL, 2014, 86 (05) :1007-1015

[10] Genetic and clinical characteristics of maturity-onset diabetes of the young [J].

Giuffrida, FMA ;

Reis, AF .

DIABETES OBESITY & METABOLISM, 2005, 7 (04) :318-326

← 1 2 →