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.

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.

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