Cataract 30, Multiple Types

A number sign (#) is used with this entry because of evidence that cataract-30 (CTRCT30) is caused by heterozygous mutation in the VIM gene (193060) on chromosome 10p13.

Description

Mutations in the VIM gene have been found to cause multiple types of cataract, which have been described as congenital, pulverulent, and posterior polar.

Clinical Features

Muller et al. (2009) screened 90 patients suffering from various types of cataract for mutations in the VIM gene. They identified a mutation (see MOLECULAR GENETICS) in only 1 patient, a 45-year-old female with pulverulent (dust-like) opacities.

Inheritance

The transmission pattern of cataracts in the family described by Muller et al. (2009) was consistent with autosomal dominant inheritance.

Molecular Genetics

In a 45-year-old woman with pulverulent cataracts, Muller et al. (2009) identified a heterozygous missense mutation (E151K) in the VIM gene (193060.0001). The patient's mother also had cataracts. The mutation was not found in 192 healthy control individuals.

By next-generation sequencing of 32 cataract-associated genes in 46 probands with apparently nonsyndromic congenital cataract, Ma et al. (2016) identified a heterozygous frameshift mutation (193060.0002) in the VIM gene in 1 proband (family 25). The mutation was confirmed by Sanger sequencing. The parents were not available for study.

By next-generation sequencing of 54 cataract-associated genes in 27 Han Chinese families with congenital cataract, Zhai et al. (2017) identified a heterozygous missense mutation (Q208R; 193060.0003) in the VIM gene in a proband and his father (family 14) with posterior polar cataract. The paternal grandfather also had cataracts. The mutation, which was confirmed by Sanger sequencing, was not present in the mother or in 100 control individuals.