Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kucinskas syndrome in two Czech Roma brothers
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F44555601%3A13450%2F20%3A43895859" target="_blank" >RIV/44555601:13450/20:43895859 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11130/20:10412690 RIV/00064203:_____/20:10412690
Výsledek na webu
<a href="https://journals.lww.com/clindysmorphol/Abstract/2020/10000/Two_novel_pathogenic_variants_in_KIAA1109_causing.8.aspx" target="_blank" >https://journals.lww.com/clindysmorphol/Abstract/2020/10000/Two_novel_pathogenic_variants_in_KIAA1109_causing.8.aspx</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/MCD.0000000000000335" target="_blank" >10.1097/MCD.0000000000000335</a>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kucinskas syndrome in two Czech Roma brothers
Popis výsledku v původním jazyce
Recently described Alkuraya-Kucinskas syndrome (ALKKUCS) clinically presented with severe congenital hydrocephalus, severe brain hypoplasia and other multiple malformations has been described in only few families worldwide to date. ALKKUCS is caused by biallelic pathogenic variants in theKIAA1109gene with autosomal recessive inheritance. We describe two brothers of Roma origin born with severe congenital hydrocephalus, brain hypoplasia and other clinical findings corresponding with ALKKUCS. Using WES two novel pathogenic variants c.359-1G>A and c.14564_14565del in compound heterozygous status in theKIAA1109gene were found in both brothers. We consider that the number of healthy heterozygous carriers of pathogenic variants inKIAA1109could be higher than it is known and pathogenic variants inKIAA1109could be more frequent cause of congenital hydrocephalus and severe brain dysplasias. Copyright (c) 2019 Wolters Kluwer Health, Inc. All rights reserved.
Název v anglickém jazyce
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kucinskas syndrome in two Czech Roma brothers
Popis výsledku anglicky
Recently described Alkuraya-Kucinskas syndrome (ALKKUCS) clinically presented with severe congenital hydrocephalus, severe brain hypoplasia and other multiple malformations has been described in only few families worldwide to date. ALKKUCS is caused by biallelic pathogenic variants in theKIAA1109gene with autosomal recessive inheritance. We describe two brothers of Roma origin born with severe congenital hydrocephalus, brain hypoplasia and other clinical findings corresponding with ALKKUCS. Using WES two novel pathogenic variants c.359-1G>A and c.14564_14565del in compound heterozygous status in theKIAA1109gene were found in both brothers. We consider that the number of healthy heterozygous carriers of pathogenic variants inKIAA1109could be higher than it is known and pathogenic variants inKIAA1109could be more frequent cause of congenital hydrocephalus and severe brain dysplasias. Copyright (c) 2019 Wolters Kluwer Health, Inc. All rights reserved.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30101 - Human genetics
Návaznosti výsledku
Projekt
—
Návaznosti
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Ostatní
Rok uplatnění
2020
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Clinical Dysmorphology
ISSN
0962-8827
e-ISSN
—
Svazek periodika
29
Číslo periodika v rámci svazku
4
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
5
Strana od-do
197-201
Kód UT WoS článku
000571103900008
EID výsledku v databázi Scopus
—