WarburgMicro综合征（WARBM）是一种常染色体隐性遗传性神经眼科综合征，以小头畸形为特征，小眼症,先天性白内障,皮质发育不良,call体发育不全，痉挛,和性腺功能减退.WARBM根据致病基因分为四个亚型，其中RAB3GAP1(OMIM#602536)占比最高。我们收集了详细的医疗记录，并对先天性白内障患者进行了全外显子组测序（WES）。在一个男孩中检测到一种新的杂合子移码RAB3GAP1变体，该男孩具有双侧膜性白内障的罕见眼部表型，并伴有持续的乳头状膜。进一步的拷贝数变异(CNV)分析鉴定了染色体2q21.3上的新缺失,其去除RAB3GAP1的24个外显子中的4个。该患者在基因检测后被诊断为WARBM。本研究扩展了WARBM的基因型和表型谱。建议将全外显子组测序（WES）和CNV分析应用于先天性白内障儿童综合征的早期诊断。
Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized by microcephaly, microphthalmia, congenital cataracts, cortical dysplasia, corpus callosum hypoplasia, spasticity, and hypogonadism. WARBM is divided into four subtypes according to the causative genes, of which RAB3GAP1 (OMIM# 602536) accounts for the highest proportion. We collected detailed medical records and performed whole-exome sequencing (WES) for a congenital cataract patient. A novel heterozygous frameshift RAB3GAP1 variant was detected in a boy with a rare ocular phenotype of bilateral membranous cataracts accompanied by a persistent papillary membrane. Further copy number variation (CNV) analysis identified a novel deletion on chromosome 2q21.3 that removed 4 of the 24 exons of RAB3GAP1. The patient was diagnosed with WARBM following genetic testing. The present study expands the genotypic and phenotypic spectrum of WARBM. It suggests applying whole exome sequencing (WES) and CNV analysis for the early diagnosis of syndromic diseases in children with congenital cataracts.
