Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F22%3A00013139" target="_blank" >RIV/00023736:_____/22:00013139 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1101/2020.10.06.328419" target="_blank" >https://doi.org/10.1101/2020.10.06.328419</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1101/2020.10.06.328419" target="_blank" >10.1101/2020.10.06.328419</a>

Result language
angličtina
Original language name
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2
Original language description
Knobloch syndrome is an autosomal recessive phenotype mainly characterized by retinal detachment and encephalocele caused by biallelic pathogenic variants in the COL18A1 gene. However, there are patients clinically diagnosed as Knobloch syndrome with unknown molecular etiology not linked to COL18A1. We studied an historical pedigree (published in 1998) designated as KNO2 (Knobloch type 2 syndrome with intellectual disability, autistic behavior, retinal degeneration, encephalocele). Whole exome sequencing of the two affected siblings and the normal parents resulted in the identification of a PAK2 non-synonymous substitution p.(Glu435Lys) as a causative variant. The variant was monoallelic and apparently de novo in both siblings indicating a likely germline mosaicism in one of the parents. The mosaicism however could not be observed after deep sequencing of blood parental DNA.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology

Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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