Document Detail

A Novel mtDNA Large-Scale Mutation Clinically Exclusively Presenting with Refractory Anemia: Is There a Chance To Predict Disease Progression?
MedLine Citation:
PMID:  22246159     Owner:  NLM     Status:  Publisher    
Because of the diversity of clinical symptoms, the diagnosis of mitochondrial DNA (mtDNA) deletion disorders can be difficult. Here, we describe an 8-month-old boy presenting clinically exclusively with refractory anemia. Mutation analysis in our patient revealed a large, novel deletion in his mtDNA encompassing ATPase 6, cytochrome oxidase subunit III, NADH dehydrogenase genes ND3 to ND6, and cytochrome b. Comparison with other cases from the literature showed that there is no genotype-phenotype correlation regarding hematologic features. It is not possible to predict whether our patient will develop additional features from Pearson syndrome or Kearns-Sayre syndrome, both syndromic mitochondrial disorders with hematological manifestations.
Vera Binder; Laura Steenpass; Hans-Juergen Laws; Jochen Ruebo; Arndt Borkhardt
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-1-12
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  -     ISSN:  1536-3678     ISO Abbreviation:  -     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-1-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
*Department of Pediatric Oncology, Hematology and Clinical Immunology, Center for Child and Adolescent Health, Medical Faculty, Heinrich Heine University, Duesseldorf †St.-Antonius-Hospital Kleve, Clinic for Child and Adolescent Health and Neonatology, Kleve, Germany.
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