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.

Department of Pediatrics 2nd Faculty of Medicine Charles University and University Hospital Motol 5 Uvalu 84 Prague Czech Republic

University Pediatric Clinic Skopje The Former Yugolav Republic of Macedonia

000      

00000naa a2200000 a 4500

001      

bmc18010523

003      

CZ-PrNML

005      

20180420093348.0

007      

ta

008      

180404s2017 ie f 000 0|eng||

009      

AR

024    7_

$a 10.1016/j.diabres.2017.04.001 $2 doi

035    __

$a (PubMed)28575730

040    __

$a ABA008 $b cze $d ABA008 $e AACR2

041    0_

$a eng

044    __

$a ie

100    1_

$a Kocova, M $u University Pediatric Clinic, Skopje, The Former Yugolav Republic of Macedonia. Electronic address: mirjanakocova@yahoo.com.

245    10

$a Novel glucokinase gene mutation in the first Macedonian family tested for MODY / $c M. Kocova, L. Elblova, S. Pruhova, J. Lebl, P. Dusatkova,

520    9_

$a 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.

650    _2

$a předškolní dítě $7 D002675

650    _2

$a diabetes mellitus 2. typu $x genetika $x terapie $7 D003924

650    _2

$a ženské pohlaví $7 D005260

650    _2

$a glukokinasa $x genetika $7 D005941

650    _2

$a glukózový toleranční test $7 D005951

650    _2

$a Řecko $7 D006115

650    _2

$a lidé $7 D006801

650    _2

$a hyperglykemie $x genetika $7 D006943

650    _2

$a mužské pohlaví $7 D008297

650    12

$a mutace $7 D009154

655    _2

$a kazuistiky $7 D002363

655    _2

$a časopisecké články $7 D016428

700    1_

$a Elblova, L $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84, Prague, Czech Republic.

700    1_

$a Pruhova, S $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84, Prague, Czech Republic.

700    1_

$a Lebl, J $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84, Prague, Czech Republic.

700    1_

$a Dusatkova, P $u Department of Pediatrics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, V Uvalu 84, Prague, Czech Republic.

773    0_

$w MED00001385 $t Diabetes research and clinical practice $x 1872-8227 $g Roč. 130, č. - (2017), s. 86-89

856    41

$u https://pubmed.ncbi.nlm.nih.gov/28575730 $y Pubmed

910    __

$a ABA008 $b sig $c sign $y a $z 0

990    __

$a 20180404 $b ABA008

991    __

$a 20180420093451 $b ABA008

999    __

$a ok $b bmc $g 1288008 $s 1007335

BAS    __

$a 3

BAS    __

$a PreBMC

BMC    __

$a 2017 $b 130 $c - $d 86-89 $e 20170510 $i 1872-8227 $m Diabetes research and clinical practice $n Diabetes Res Clin Pract $x MED00001385

LZP    __

$a Pubmed-20180404