Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10395781" target="_blank" >RIV/00216208:11130/20:10395781 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/20:10395781

Výsledek na webu

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=oNS1bdwcxU" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=oNS1bdwcxU</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.ejmg.2019.01.009" target="_blank" >10.1016/j.ejmg.2019.01.009</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome

Popis výsledku v původním jazyce

Birk Barel syndrome also known as KCNK9 imprinting syndrome is a rare developmental disorder associated with a loss-of-function variant in KCNK9, an imprinted gene with maternal expression on the 8th chromosome encoding the TASK3 (TWIK-related acidity inhibited K + -channel 3). Only two variants of KCNK9 have been associated with this condition before, both of them leading to the same amino-acid exchange p.Gly236Arg (Barel &apos; 2008, Graham &apos; 2016). We describe a case of a 17-year-old girl presenting with very similar phenotype and pure motor neuropathy with a novel variant c.710C &gt; A: p.Ala237Asp (NM_001282534.1) in KCNK9 found by whole exome sequencing. Our case suggests that Birk Barel syndrome may not be caused only by variants leading to amino-acid exchange p.Gly236Arg but also by other missense variant in this gene and that peripheral motor neuropathy might be a feature of this syndrome.

Název v anglickém jazyce

Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome

Popis výsledku anglicky

Birk Barel syndrome also known as KCNK9 imprinting syndrome is a rare developmental disorder associated with a loss-of-function variant in KCNK9, an imprinted gene with maternal expression on the 8th chromosome encoding the TASK3 (TWIK-related acidity inhibited K + -channel 3). Only two variants of KCNK9 have been associated with this condition before, both of them leading to the same amino-acid exchange p.Gly236Arg (Barel &apos; 2008, Graham &apos; 2016). We describe a case of a 17-year-old girl presenting with very similar phenotype and pure motor neuropathy with a novel variant c.710C &gt; A: p.Ala237Asp (NM_001282534.1) in KCNK9 found by whole exome sequencing. Our case suggests that Birk Barel syndrome may not be caused only by variants leading to amino-acid exchange p.Gly236Arg but also by other missense variant in this gene and that peripheral motor neuropathy might be a feature of this syndrome.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30103 - Neurosciences (including psychophysiology)

Projekt

<a href="/cs/project/NV16-30206A" target="_blank" >NV16-30206A: Celogenomové a RNA masivně paralelní sekvenování jako nástroj pro objasnění příčin vzácných typů dědičných neuropatií.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

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

Název periodika

European Journal of Medical Genetics

ISSN

1769-7212

e-ISSN

—

Svazek periodika

Neuveden

Číslo periodika v rámci svazku

01/2019

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

3

Strana od-do

—

Kód UT WoS článku

000507918700009

EID výsledku v databázi Scopus

2-s2.0-85060724821