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Clinical phenotype and genetic analysis of RPS19 , RPL5 , and RPL11 genes in Greek patients with Diamond Blackfan Anemia
Author(s) -
Delaporta Polyxeni,
Sofocleous Christalena,
Stiakaki Eftichia,
Polychronopoulou Sophia,
Economou Marina,
Kossiva Lydia,
Kostaridou Stavroula,
Kattamis Antonis
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25183
Subject(s) - diamond–blackfan anemia , medicine , macrocytic anemia , gene , anemia , mutation , gene mutation , bone marrow failure , germline mutation , genetics , biology , ribosome , rna , stem cell , haematopoiesis
Background Diamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our findings from the study of 17 patients recorded in the Greek DBA registry. Procedure Clinical evaluation of patients and data collection was performed followed by the molecular analysis of RPS19 , RPL5 , and RPL11 genes. Mutation screening included PCR amplification, ECMA analysis, and direct sequencing. Results Congenital anomalies were observed in 71% of the patients. Six patients (35.2%) were found to carry mutations on either the RPS19 gene (three patients,) or the RPL5 gene (three patients). Mutations c.C390G (p.Y130X) and c.197_198insA (p.Y66X) detected in the RPL5 gene were novel. No mutations at the RPL11 gene were identified in Greek patients with DBA. Conclusions The clinical course of the patients was similar to previous reports. The occurrence of thyroid carcinoma in an adult patient with DBA is the first to be reported in DBA. Pediatr Blood Cancer 2014;61:2249–2255. © 2014 Wiley Periodicals, Inc.