Biallelic <i>GINS2</i> variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

ABSTRACT:

Introduction

Replication of the nuclear genome is an essential step for cell division. Pathogenic variants in genes coding for highly conserved components of the DNA replication machinery cause Meier-Gorlin syndrome (MGORS).

Objective

Identification of novel genes associated with MGORS.

Methods

Exome sequencing was performed to investigate the genotype of an individual presenting with prenatal and postnatal growth restriction, a craniofacial gestalt of MGORS and coronal craniosynostosis. The analysis of the candidate variants employed bioinformatic tools, in silico structural protein analysis and modelling in budding yeast.

Results

A novel homozygous missense variant NM_016095.2:c.341G>T, p.(Arg114Leu), in GINS2 was identified. Both non-consanguin

SUBMITTER: Nabais Sa MJ 

PROVIDER: S-EPMC9340002 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature