# Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome

## TL;DR

A patient with eye and body features similar to Marfan syndrome is found to have genetic changes in the CPAMD8 gene.

## Contribution

This is the first report linking biallelic CPAMD8 variants to systemic features resembling Marfan syndrome.

## Key findings

- The patient had biallelic CPAMD8 variants and bilateral ectopia lentis.
- He exhibited extraocular features like slender build, scoliosis, and arachnodactyly.
- These findings suggest CPAMD8-related disorder may be a syndromic condition.

## Abstract

Here we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]). He exhibited previously unreported extraocular features, including a slender build, scoliosis, arachnodactyly and positive thumb sign and wrist sign, which is reminiscent of Marfan syndrome. These findings may suggest that CPAMD8-related disorder is a syndromic condition associated with extraocular systemic features similar to those seen in Marfan syndrome.