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    Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

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    Authors
    Gazda, Hanna T.
    Sheen, Mee Rie
    Vlachos, Adrianna
    Choesmel, Valerie
    O'Donohue, Marie-Francoise
    Schneider, Hal
    Darras, Natasha
    Hasman, Catherine
    Sieff, Colin A.
    Newburger, Peter E.
    Ball, Sarah E.
    Niewiadomska, Edyta
    Matysiak, Michal
    Zaucha, Jan M.
    Glader, Bertil
    Niemeyer, Charlotte
    Meerpohl, Joerg J.
    Atsidaftos, Eva
    Lipton, Jeffrrey M.
    Gleizes, Pierre-Emmanuel
    Beggs, Alan H.
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    UMass Chan Affiliations
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2008-12-01
    Keywords
    Anemia, Diamond-Blackfan
    Cleft Palate
    Humans
    *Mutation
    Ribosomal Proteins
    Ribosome Subunits, Large
    Ribosome Subunits, Small
    Thumb
    Hematology
    Oncology
    Pediatrics
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    Link to Full Text
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668101/pdf/main.pdf
    Abstract
    Diamond-Blackfan anemia (DBA), a congenital bone-marrow-failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital anomalies that are present in approximately 30%-50% of patients. The disease has been associated with mutations in four ribosomal protein (RP) genes, RPS19, RPS24, RPS17, and RPL35A, in about 30% of patients. However, the genetic basis of the remaining 70% of cases is still unknown. Here, we report the second known mutation in RPS17 and probable pathogenic mutations in three more RP genes, RPL5, RPL11, and RPS7. In addition, we identified rare variants of unknown significance in three other genes, RPL36, RPS15, and RPS27A. Remarkably, careful review of the clinical data showed that mutations in RPL5 are associated with multiple physical abnormalities, including craniofacial, thumb, and heart anomalies, whereas isolated thumb malformations are predominantly present in patients carrying mutations in RPL11. We also demonstrate that mutations of RPL5, RPL11, or RPS7 in DBA cells is associated with diverse defects in the maturation of ribosomal RNAs in the large or the small ribosomal subunit production pathway, expanding the repertoire of ribosomal RNA processing defects associated with DBA.
    Source
    Am J Hum Genet. 2008 Dec;83(6):769-80. doi 10.1016/j.ajhg.2008.11.004. Link to article on publisher's website
    DOI
    10.1016/j.ajhg.2008.11.004
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43310
    PubMed ID
    19061985
    Related Resources
    Link to article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.ajhg.2008.11.004
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