Novel glucokinase gene mutation in the first Macedonian family tested for MODY

被引：1
作者：
Kocova, M. [1 ]
Elblova, L. [2 ,3 ]
Pruhova, S. [2 ,3 ]
Lebl, J. [2 ,3 ]
Dusatkova, P. [2 ,3 ]
机构：
[1] Univ Pediat Clin, Skopje 1000, Macedonia
[2] Charles Univ Prague, Fac Med 2, Dept Pediat, V Uvalu 84, Prague, Czech Republic
[3] Univ Hosp Motol, V Uvalu 84, Prague, Czech Republic
来源：
DIABETES RESEARCH AND CLINICAL PRACTICE | 2017年 / 130卷
关键词：
GCK-MODY; GCK mutation; Mild hyperglycemia; POPULATION; LINKAGE; YOUNG;
D O I：
10.1016/j.diabres.2017.04.001
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
We present a boy with mild hyperglycemia detected during an upper respiratory infection. Novel splicing mutation in the intron 1 of the GCK gene (c.45+1G>A) was detected, and was subsequently confirmed in his father. This is the first case of genetically confirmed Macedonian family with MODY. (C) 2017 Elsevier B.V. All rights reserved.
引用
收藏
页码：86 / 89
页数：4
相关论文
共 20 条
  • [1] Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene
    Borowiec, Maciej
    Mysliwiec, Malgorzata
    Fendler, Wojciech
    Antosik, Karolina
    Brandt, Agnieszka
    Malecki, Maciej
    Mlynarski, Wojciech
    [J]. ACTA DIABETOLOGICA, 2011, 48 (03) : 203 - 208
  • [2] Evolution and regulatory role of the hexokinase
    Cárdenas, ML
    Cornish-Bowden, A
    Ureta, T
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 1998, 1401 (03): : 242 - 264
  • [3] The 0.1% of the Population With Glucokinase Monogenic Diabetes Can Be Recognized by Clinical Characteristics in Pregnancy: The Atlantic Diabetes in Pregnancy Cohort
    Chakera, Ali J.
    Spyer, Gill
    Vincent, Nicola
    Ellard, Sian
    Hattersley, Andrew T.
    Dunne, Fidelma P.
    [J]. DIABETES CARE, 2014, 37 (05) : 1230 - 1236
  • [4] Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
    Ellard, S.
    Bellanne-Chantelot, C.
    Hattersley, A. T.
    [J]. DIABETOLOGIA, 2008, 51 (04) : 546 - 553
  • [5] Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes
    Flannick, Jason
    Beer, Nicola L.
    Bick, Alexander G.
    Agarwala, Vineeta
    Molnes, Janne
    Gupta, Namrata
    Burtt, Noel P.
    Florez, Jose C.
    Meigs, James B.
    Taylor, Herman
    Lyssenko, Valeriya
    Irgens, Henrik
    Fox, Ervin
    Burslem, Frank
    Johansson, Stefan
    Brosnan, M. Julia
    Trimmer, Jeff K.
    Newton-Cheh, Christopher
    Tuomi, Tiinamaija
    Molven, Anders
    Wilson, James G.
    O'Donnell, Christopher J.
    Kathiresan, Sekar
    Hirschhorn, Joel N.
    Njolstad, Pal R.
    Rolph, Tim
    Seidman, J. G.
    Gabriel, Stacey
    Cox, David R.
    Seidman, Christine E.
    Groop, Leif
    Altshuler, David
    [J]. NATURE GENETICS, 2013, 45 (11) : 1380 - +
  • [6] CLOSE LINKAGE OF GLUCOKINASE LOCUS ON CHROMOSOME-7P TO EARLY-ONSET NON-INSULIN-DEPENDENT DIABETES-MELLITUS
    FROGUEL, P
    VAXILLAIRE, M
    SUN, F
    VELHO, G
    ZOUALI, H
    BUTEL, MO
    LESAGE, S
    VIONNET, N
    CLEMENT, K
    FOUGEROUSSE, F
    TANIZAWA, Y
    WEISSENBACH, J
    BECKMANN, JS
    LATHROP, GM
    PASSA, P
    PERMUTT, MA
    COHEN, D
    [J]. NATURE, 1992, 356 (6365) : 162 - 164
  • [7] Grazia A, 2017, DIABETES CARE
  • [8] Mutations in the glucokinase gene of the fetus result in reduced birth weight
    Hattersley, AT
    Beards, F
    Ballantyne, E
    Appleton, M
    Harvey, R
    Ellard, S
    [J]. NATURE GENETICS, 1998, 19 (03) : 268 - 270
  • [9] LINKAGE OF TYPE-2 DIABETES TO THE GLUCOKINASE GENE
    HATTERSLEY, AT
    TURNER, RC
    PERMUTT, MA
    PATEL, P
    TANIZAWA, Y
    CHIU, KC
    ORAHILLY, S
    WATKINS, PJ
    WAINSCOAT, JS
    [J]. LANCET, 1992, 339 (8805) : 1307 - 1310
  • [10] Renal threshold for glucose normal and in diabetics
    Lawrence, RD
    [J]. BMJ-BRITISH MEDICAL JOURNAL, 1940, 1940 : 766 - 768
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