• Something wrong with this record ?

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome

M. Trkova, V. Becvarova, M. Hynek, L. Hnykova, E. Hlavova, G. Kreckova, E. Kulovany, D. Cutka, J. Zatloukalova, K. Markova, M. Sukova, J. Horacek, D. Stejskal,

. 2012 ; 158A (10) : 2545-50.

Language English Country United States

Document type Case Reports, Journal Article

Persistent link   https://www.medvik.cz/link/bmc13012545

Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia.

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc13012545
003      
CZ-PrNML
005      
20130409095105.0
007      
ta
008      
130404s2012 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1002/ajmg.a.35537 $2 doi
035    __
$a (PubMed)22887642
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Trkova, Marie $u Gennet, Centre for Fetal Medicine, Praha, Czech Republic. marie.trkova@gennet.cz
245    10
$a SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome / $c M. Trkova, V. Becvarova, M. Hynek, L. Hnykova, E. Hlavova, G. Kreckova, E. Kulovany, D. Cutka, J. Zatloukalova, K. Markova, M. Sukova, J. Horacek, D. Stejskal,
520    9_
$a Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia.
650    _2
$a dospělí $7 D000328
650    12
$a chromozomální delece $7 D002872
650    _2
$a lidské chromozomy, pár 11 $x genetika $7 D002880
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a genetické asociační studie $7 D056726
650    _2
$a lidé $7 D006801
650    _2
$a kojenec $7 D007223
650    _2
$a Jacobsenův syndrom $x genetika $x patofyziologie $7 D054868
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a fenotyp $7 D010641
650    _2
$a jednonukleotidový polymorfismus $x genetika $7 D020641
650    _2
$a protoonkogenní protein c-fli-1 $x genetika $7 D051789
650    _2
$a trombocytopenie $x genetika $7 D013921
650    _2
$a mladý dospělý $7 D055815
655    _2
$a kazuistiky $7 D002363
655    _2
$a časopisecké články $7 D016428
700    1_
$a Becvarova, Vera $u -
700    1_
$a Hynek, Martin $u -
700    1_
$a Hnykova, Lenka $u -
700    1_
$a Hlavova, Eva $u -
700    1_
$a Kreckova, Gabriela $u -
700    1_
$a Kulovany, Eduard $u -
700    1_
$a Cutka, David $u -
700    1_
$a Zatloukalova, Jitka $u -
700    1_
$a Markova, Kristyna $u -
700    1_
$a Sukova, Martina $u -
700    1_
$a Horacek, Jiri $u -
700    1_
$a Stejskal, David $u -
773    0_
$w MED00012678 $t American journal of medical genetics. Part A $x 1552-4833 $g Roč. 158A, č. 10 (2012), s. 2545-50
856    41
$u https://pubmed.ncbi.nlm.nih.gov/22887642 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20130404 $b ABA008
991    __
$a 20130409095333 $b ABA008
999    __
$a ok $b bmc $g 975743 $s 810826
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2012 $b 158A $c 10 $d 2545-50 $i 1552-4833 $m American journal of medical genetics. Part A $n Am J Med Genet $x MED00012678
LZP    __
$a Pubmed-20130404

Find record

Citation metrics

Archiving options