Chromosome Breakage Disorders

Gene: MARS

Red List (low evidence)

Comment when marking as ready: New HGNC approved name is MARS1.

Created: 8 Oct 2021, 2:37 a.m. | Last Modified: 8 Oct 2021, 2:37 a.m.

Panel Version: 1.8

Bi-allelic ariants in this gene are associated with interstitial and liver disease.

PMID: 33909043 - Botta et al 2021 - using WES/WGS analysis of 34 unsolved cases with multi-system phenotypes, but with hair alterations that are typical of trichothiodystrophy but no reported photosensitivity, they identified a homozygous variant in one Italian patient (c.1201G > A (p.Val401Me) that is very rare (gnomAD frequency 0.00001414). Functional studies suggest that the variant affects gene product stability.

Although chromosome breakage is unlikely to be the underlying mechanism, included in this panel for completeness with a Red rating (one individual reported).
Sources: Literature

Created: 8 Oct 2021, 2:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy, MONDO:0018053; Trichothiodystrophy 9, nonphotosensitive, MIM# 619692

Publications

• 33909043