Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.

ABSTRACT:

Background

The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family.

Methods

We have performed ocular examination and review of medical records in two individuals diagnosed with nanophthalmos (proband and her father) and one individual followed for bilateral congenital cataract and microcornea (uncle of the proband). DNA of subjects with nanophthalmos was analysed by exome sequencing. Sanger sequencing was applied for targeted screening of potentially pathogenic variants and to follow segregation of identified variants within the family.

Results

A homozygous variant c.1509G>C; p.(Met503Ile), in PRSS56 was found in the two individ

SUBMITTER: Dudakova L 

PROVIDER: S-EPMC7212339 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature