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Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia.

Abstract：

:Diamond-Blackfan anemia (DBA) is a rare congenital red-cell aplasia characterized by anemia, bone-marrow erythroblastopenia, and congenital anomalies and is associated with heterozygous mutations in the ribosomal protein (RP) S19 gene (RPS19) in approximately 25% of probands. We report identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by RPS24 [10q22-q23]) in approximately 2% of RPS19 mutation-negative probands. This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Gazda HT,Grabowska A,Merida-Long LB,Latawiec E,Schneider HE,Lipton JM,Vlachos A,Atsidaftos E,Ball SE,Orfali KA,Niewiadomska E,Da Costa L,Tchernia G,Niemeyer C,Meerpohl JJ,Stahl J,Schratt G,Glader B,Backer K,Wong C,

doi

10.1086/510020

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

1110-8

issue

6

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)63474-0

journal_volume

79

pub_type

杂志文章

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