Hypophosphatasia due to uniparental disomy

Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10315372" target="_blank" >RIV/00216208:11130/15:10315372 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00064203:_____/15:10315372
Výsledek na webu
<a href="http://dx.doi.org/10.1016/j.bone.2015.04.041" target="_blank" >http://dx.doi.org/10.1016/j.bone.2015.04.041</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.bone.2015.04.041" target="_blank" >10.1016/j.bone.2015.04.041</a>

Jazyk výsledku
angličtina
Název v původním jazyce
Hypophosphatasia due to uniparental disomy
Popis výsledku v původním jazyce
We have read with interest the paper by Watanabe et al. describing a fetus with hypophosphatasia (HPP) caused by paternal uniparental disomy (UPD) of chromosome 1 resulting in homozygosity for an ALPL mutation. Although we have recently identified a similar case, we are not convinced that the claim by Watanabe et al. that UPD can be a frequent mechanism of recessive disorders is supported by current data. However, it should be stressed that UPD is not the only reason why parental genotypes should alwaysbe tested when homozygosity for a recessive mutation is identified in the child, especially in a prenatal diagnostic setting.
Název v anglickém jazyce
Hypophosphatasia due to uniparental disomy
Popis výsledku anglicky
We have read with interest the paper by Watanabe et al. describing a fetus with hypophosphatasia (HPP) caused by paternal uniparental disomy (UPD) of chromosome 1 resulting in homozygosity for an ALPL mutation. Although we have recently identified a similar case, we are not convinced that the claim by Watanabe et al. that UPD can be a frequent mechanism of recessive disorders is supported by current data. However, it should be stressed that UPD is not the only reason why parental genotypes should alwaysbe tested when homozygosity for a recessive mutation is identified in the child, especially in a prenatal diagnostic setting.

Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
EB - Genetika a molekulární biologie
OECD FORD obor
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Projekt
<a href="/cs/project/NT14200" target="_blank" >NT14200: Identifikace genetických defektů v rodinách pacientů s autismem</a><br>
Návaznosti
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění
2015
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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