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

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

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

Název periodika

Human molecular genetics

ISSN

0964-6906

e-ISSN

—

Svazek periodika

31

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

9

Strana od-do

1-9

Kód UT WoS článku

000733777800001

EID výsledku v databázi Scopus

2-s2.0-85128247467