Hypophosphatasia due to uniparental disomy

Result code in 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>
Alternative codes found
RIV/00064203:_____/15:10315372
Result on the web
<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>

Result language
angličtina
Original language name
Hypophosphatasia due to uniparental disomy
Original language description
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.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/NT14200" target="_blank" >NT14200: Identification of genetic defects in families of patients with autism</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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