Recently described Alkuraya-Kučinskas 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 the KIAA1109 gene 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 the KIAA1109 gene were found in both brothers. We consider that the number of healthy heterozygous carriers of pathogenic variants in KIAA1109 could be higher than it is known and pathogenic variants in KIAA1109 could be more frequent cause of congenital hydrocephalus and severe brain dysplasias.

中文翻译：

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KIAA1109中的两个新的致病变异，在两个捷克罗姆兄弟中引起Alkuraya-Kučinskas综合征。

迄今为止，全世界范围内只有少数家庭描述了最近描述的临床上患有严重的先天性脑积水，严重的脑发育不全和其他多种畸形的Alkuraya-Kučinskas综合征（ALKKUCS）。ALKKUCS是由具有常染色体隐性遗传的KIAA1109基因中的双等位基因致病变异引起的。我们描述了罗姆人的两个兄弟，他们出生时患有严重的先天性脑积水，脑发育不全和其他与ALKKUCS相对应的临床发现。利用WES，在两个兄弟中发现了KIAA1109基因中复合杂合状态的两个新的致病变体c.359-1G> A和c.14564_14565del。