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Blood, Vol. 94 No. 12 (December 15), 1999:
pp. 4294-4306
Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan
Anemia: Wide Variations in Phenotypic Expression
Thiébaut-Noël Willig,
Natalia Draptchinskaia,
Irma Dianzani,
Sarah Ball,
Charlotte Niemeyer,
Ugo Ramenghi,
Karen Orfali,
Peter Gustavsson,
Emanuela Garelli,
Alfredo Brusco,
Christian Tiemann,
Jean Louis Pérignon,
Christiane Bouchier,
Lawrence Cicchiello,
Niklas Dahl,
Narla Mohandas, and
Gil Tchernia
From the Life Science Division, Lawrence Berkeley National Laboratory
(LBNL), Berkeley, CA; the Département de Pédiatrie et
Laboratoire d'Hématologie, Hôpital Bicêtre,
Assistance Publique-Hôpitaux de Paris, et Faculté de
Médecine Paris Sud, Université Paris XI, Bicêtre,
France; the Unit of Clinical Genetics, Department of Genetics and
Pathology, Uppsala University Children's Hospital, Uppsala, Sweden;
the Departments of Pediatrics and Genetics, University of Torino,
Torino, Italy; the Department of Medical Sciences, University of
Eastern Piedmont, Novara, Italy; the DBA Study Group, Division of
Haematology, Department of Cellular and Molecular Sciences, St.
George's Hospital Medical School, London, UK; the
Universität-Kinderklinik, Freiburg, Germany; the Laboratoire de
Biochimie, Hôpital Necker, Assistance Publique-Hôpitaux de
Paris, Paris, France; and Banque d'ADN, Genethon III, Evry, France.
Mutations of the ribosomal protein S19 (RPS19) gene were recently
identified in 10 patients with Diamond Blackfan anemia (DBA). To
determine the prevalence of mutations in this gene in DBA and to begin
to define the molecular basis for the observed variable clinical
phenotype of this disorder, the genomic sequence of the 6 exons and the
5' untranslated region of the RPS19 gene was directly assessed in
DBA index cases from 172 new families. Mutations affecting the coding
sequence of RPS19 or splice sites were found in 34 cases (19.7%),
whereas mutations in noncoding regions were found in 8 patients
(4.6%). Mutations included nonsense, missense, splice sites, and
frameshift mutations. A hot spot for missense mutations was identified
between codons 52 and 62 of the RPS19 gene in a new sequence consensus
motif
W-[YFW]-[YF]-x-R-[AT]-A-[SA]-x-[AL]-R-[HRK]-[ILV]-Y. No
correlation between the nature of mutations and the different patterns
of clinical expression, including age at presentation, presence of
malformations, and therapeutic outcome, could be documented. Moreover,
RPS19 mutations were also found in some first-degree relatives
presenting only with isolated high erythrocyte adenosine deaminase
activity and/or macrocytosis. The lack of a consistent relationship
between the nature of the mutations and the clinical phenotype implies
that yet unidentified factors modulate the phenotypic expression of the
primary genetic defect in families with RPS19 mutations.
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