Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.

ABSTRACT:

Background

Biallelic TENM3 pathogenic variants cause isolated or syndromic microphthalmia. Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay. Currently, only four cases of MCOPS15 have been reported and the clinical features varied among the patients indicating potential broad phenotypic spectrum.

Methods

The present case was a 6-month-old male at diagnosis. The patient exhibited long philtrum, large ears, bilateral ptosis, and nystagmus. Ophthalmic tests showed that he had microcornea, iris and choroidal coloboma. The patient presented with global developmental delay (GDD). Trio-whole exome sequencing and genome copy number sequencing were conducted to explore the disease-causing mutations.

Results

Exome seque

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC9184666 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature