Genotype-phenotype associations in individuals with Diamond Blackfan anaemia.

ABSTRACT:

Introduction

Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.

Methods

We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (RPS19, RPS29, RPS26 and RPL35A) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).

Results

A pathogenic germline variant was identified in 71% of p

SUBMITTER: Gianferante DM 

PROVIDER: S-EPMC11647742 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature