SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8114" target="_blank" >RIV/00064203:_____/12:8114 - isvavai.cz</a>

Výsledek na webu

<a href="http://dx.doi.org/10.1002/ajmg.a.35537" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.35537</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome

Popis výsledku v původním jazyce

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 inthe 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 deleti

Název v anglickém jazyce

SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome

Popis výsledku anglicky

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 inthe 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 deleti

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2012

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

American Journal of Medical Genetics. Part A

ISSN

1552-4825

e-ISSN

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Svazek periodika

158A

Číslo periodika v rámci svazku

10

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

6

Strana od-do

2545-2550

Kód UT WoS článku

000310070700027

EID výsledku v databázi Scopus

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