Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

Paola Quarello; Emanuela Garelli; Adriana Carando; Cecilia Mancini; Luiselda Foglia; Carlotta Botto; Piero Farruggia; Kim de Keersmaecker; Anna Aspesi; Steve R. Ellis; Irma Dianzani; Ugo Ramenghi

doi:10.1111/bjh.13880

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

Paola Quarello
, Emanuela Garelli
, Adriana Carando
, Cecilia Mancini
, Luiselda Foglia
, Carlotta Botto
, Piero Farruggia
, Kim de Keersmaecker
, Anna Aspesi
, Steve R. Ellis
, Irma Dianzani
, Ugo Ramenghi

Department of Health Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.

Original language	English
Pages (from-to)	782-785
Number of pages	4
Journal	British Journal of Haematology
Volume	172
Issue number	5
DOIs	https://doi.org/10.1111/bjh.13880
Publication status	Published - 1 Mar 2016

Keywords

Diagnosis
Diamond Blackfan anaemia
Mutation
RP gene
rRNA

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10.1111/bjh.13880

Cite this

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title = "Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia",

abstract = "Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.",

keywords = "Diagnosis, Diamond Blackfan anaemia, Mutation, RP gene, rRNA",

author = "Paola Quarello and Emanuela Garelli and Adriana Carando and Cecilia Mancini and Luiselda Foglia and Carlotta Botto and Piero Farruggia and \{de Keersmaecker\}, Kim and Anna Aspesi and Ellis, \{Steve R.\} and Irma Dianzani and Ugo Ramenghi",

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doi = "10.1111/bjh.13880",

language = "English",

volume = "172",

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TY - JOUR

T1 - Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

AU - Quarello, Paola

AU - Garelli, Emanuela

AU - Carando, Adriana

AU - Mancini, Cecilia

AU - Foglia, Luiselda

AU - Botto, Carlotta

AU - Farruggia, Piero

AU - de Keersmaecker, Kim

AU - Aspesi, Anna

AU - Ellis, Steve R.

AU - Dianzani, Irma

AU - Ramenghi, Ugo

PY - 2016/3/1

Y1 - 2016/3/1

N2 - Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.

AB - Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.

KW - Diagnosis

KW - Diamond Blackfan anaemia

KW - Mutation

KW - RP gene

KW - rRNA

UR - https://www.scopus.com/pages/publications/84958851371

U2 - 10.1111/bjh.13880

DO - 10.1111/bjh.13880

M3 - Article

SN - 0007-1048

VL - 172

SP - 782

EP - 785

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 5

ER -

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

Abstract

Keywords

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