ArticleAmerican journal of medical genetics. Part A2020
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 38 citations in OpenAlex.
- Article
- The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.Frontiers in cell and developmental biology · 2024Article
- Clinical Approaches for Mitochondrial Diseases.Cells · 2023Review
- Article
- Gene Editing Technologies Targeting TFAM and Its Relation to Mitochondrial Diseases.Advances in experimental medicine and biology · 2023Article
- Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.Journal of medical genetics · 2023Article
- Anemia in the pediatric patient.Blood · 2022Article
- Molecular Genetics Overview of Primary Mitochondrial Myopathies.Journal of clinical medicine · 2022Review
- Preterm twins with antenatal presentation of Pearson syndrome.Case reports in perinatal medicine · 2022Article
- Acquired and hereditary bone marrow failure: A mitochondrial perspective.Frontiers in oncology · 2022Review
- Mitochondrial Hepatopathies.Clinical liver disease · 2021Review
- Two Novel Variants inJournal of clinical medicine · 2021Article
- Comprehensive clinical and genetic work-up of patients carrying single mtDNA deletions is warranted.Translational pediatrics · 2021Article
- Mitochondrial Syndromes Revisited.Journal of clinical medicine · 2021Review
- Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report.Translational pediatrics · 2021Article
- Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.Molecular genetics & genomic medicine · 2020Article
- Mitochondrial Dynamics during Development.Newborn (Clarksville, Md.)Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large-scale mitochondrial DNA (mtDNA) deletion. PS classically presents in the first year of life and may be fatal in infancy. Children who survive PS may progress to develop Kearns-Sayre syndrome later in life. The full phenotypic spectrum and prognosis of the condition continue to evolve. Here we report five new patients with PS with unique clinical presentations, including four patients with onset later than previously reported in the literature, and one patient with prenatal onset of symptoms. The timing and unique features of these presentations support an expanded phenotypic spectrum of single large-scale mtDNA deletion syndromes (SLSMDS) and reinforce the importance of including SLSMDS in the differential for children with complex multisystem presentations.
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