PDF(Pubmed)
Abstract：
Warburg micro (WARBM) syndrome is an autosomal recessive disease characterized by severe brain and eye abnormalities. Loss-of-function mutations in RAB18, RAB3GAP2, RAB3GAP1, or TBC1D20 can lead to this disease. Here, we present two unrelated WARBM syndrome patients who had an RAB3GAP1 c.559 C > T, (p.Arg187Ter) and c.520 C > T (p.Arg174Ter) homozygous state. Both patients had microcephaly, microphthalmia, microcornea, bilateral congenital cataracts, severe intellectual disability, and congenital hypotonia. Using the method of next-generation sequencing and sanger sequencing, we found two nonsense variations at the splice site in exon 7 of RAB3GAP1 in the WARBM syndrome patients. The mutations were predicted to cause the syndrome due to the early stop codon, and the patients had the WARBM1 syndrome. We present the first clinical report of two different unreported variants with RAB3GAP1 mutation in the literature.
摘要：
Warburgmicro（WARBM）综合征是一种常染色体隐性遗传疾病，其特征是严重的大脑和眼睛异常。RAB18、RAB3GAP2、RAB3GAP1或TBC1D20中的功能缺失突变可导致这种疾病。这里,我们介绍了两名无关的WARBM综合征患者，他们的RAB3GAP1c.559C>T，(p.Arg187Ter）和c.520C>T（p。Arg174Ter)纯合状态。两个病人都有小头畸形,小眼症,微角膜,双侧先天性白内障，严重的智力残疾，和先天性肌张力减退.采用下一代测序和桑格测序的方法,我们在WARBM综合征患者的RAB3GAP1外显子7的剪接位点发现了两个无义变异。由于早期终止密码子，预计突变会导致该综合征，患者患有WARBM1综合征。我们在文献中首次报道了两种不同的RAB3GAP1突变的未报道变体。
