The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.

ABSTRACT:

Background

Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases.

Methods

We ascertained five individuals with monoallelic pathogenic variants in MORC2, previously associated with three dominantly inherited phenotypes: an axonal form of Charcot-Marie-Tooth disease type 2Z; a syndrome of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy; and a rare form of spinal muscular atrophy.

Results

One of these individuals bore a strong phenotypic resemblance to CS. We then identified monoallelic pathogenic MORC2 variants in three of five genetically unsolved individuals with a clinical diagnosis of CS. In t

SUBMITTER: Stafki SA 

PROVIDER: S-EPMC10098370 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature