Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.

Abstract:
To date, heterozygous mutations in nine RP (ribosomal proteins) genes have been conclusively associated with DBA (Diamond-Blackfan anemia). While most RP genes were studied in detail, only three and nine distinct mutations mutations mutations in the RPS10 and RPS26 genes, respectively, were published recently, in one paper. We therefore decided to perform a mutational analysis of these two genes in 14 out of 31 DBA probands from the Czech DBA Registry. We show here for the first time the association of RPS26 mutation with Klippel-Feil syndrome in a patient with DBA. In summary, the Czech DBA Registry currently comprises patients with mutations in five different RPs: RPS19 (25.8 %); RPL5 (19.4 %); RPS26 (12.9 %); RPL11 (6.5 %); and RPS17 (3.2 %).
 
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