# Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters

## TL;DR

A new genetic variant in the JMJD6 gene is linked to congenital eyelid coloboma in a young girl.

## Contribution

Identification of a novel de novo intronic variant in JMJD6 associated with congenital eyelid coloboma.

## Key findings

- A novel likely pathogenic variant (c.941+75G > T) in the JMJD6 gene was identified in a 3-year-old girl with congenital eyelid coloboma.
- The variant is de novo and has not been previously reported, expanding the known spectrum of JMJD6-related disorders.
- This finding provides insights for clinical diagnosis and genetic counseling for congenital eyelid coloboma.

## Abstract

Congenital eyelid coloboma (CEC) is a rare genetic disease, manifesting as a congenital partial or total defect of the eyelid. In this study, we report a pedigree with CEC caused by a novel pathogenic variant in JMJD6.

The proband was a 3-year-old girl who presented with a congenital coloboma of the left upper eyelid, accompanied by hypoplasia of the ipsilateral eyebrow. Karyotype analysis was normal. Whole-exome sequencing (WES) identified a novel pathogenic variant in JMJD6 (c.941+75G > T), which was classified as a likely pathogenic (LP) and de novo variant. To date, this variant has not been reported.

Our study found a novel pathogenic variant in JMJD6 (c.941+75G > T), which broadens the CEC phenotype spectrum and JMJD6 gene variant spectrum, providing a basis for clinical diagnosis, genetic counseling, and treatment.