A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report.

ABSTRACT:

Rationale

Warburg Micro syndrome is a rare, autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and genital systems. This case report describes a novel mutation in the RAB3GAP1 gene associated with Warburg Micro syndrome.

Patient concerns

A 6-month-old female infant with bilateral congenital cataracts and developmental delay was referred to our department for further assessment. She presented with facial dysmorphic features, including a prominent forehead, microphthalmia, wide nasal bridge, relatively narrow mouth, large anteverted ears, and micrognathia.

Diagnoses

The patient was diagnosed with Warburg Micro syndrome based on clinical manifestations, as well as a novel homozygous mutation in RAB3GAP1: c.75-2A>C. B

SUBMITTER: Zhou D 

PROVIDER: S-EPMC7808449 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature