Publication Date

2021

Journal Title

Haematologica

Abstract

Diamond Blackfan anemia (DBA) is predominantly an autosomal dominant inherited red cell aplasia primarily caused by pathogenic germline variants in ribosomal protein genes. DBA due to pathogenic RPL35A variants has been associated with large 3q29 deletions and phenotypes not common in DBA. We conducted a multi-institutional genotype-phenotype study of 45 patients with DBA associated with pathogenic RPL35A germline variants and curated the variant data on 21 additional cases from the literature. Genotype-phenotype analyses were conducted comparing patients with large deletions versus all other pathogenic variants in RPL35A. Twenty-two of the 45 cases had large deletions in RPL35A. After adjusting for multiple tests, a statistically significant association was observed between patients with a large deletion and steroid-resistant anemia, neutropenia, craniofacial abnormalities, chronic gastrointestinal problems, and intellectual disabilities (p

Volume Number

106

Issue Number

5

Pages

1303-1310

Document Type

Article

Status

Faculty; Northwell Researcher

Facility

School of Medicine; Northwell Health

Primary Department

General Pediatrics

Additional Departments

Molecular Medicine

PMID

32241839

DOI

10.3324/haematol.2020.246629


Included in

Pediatrics Commons

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