AUTHOR=Ying Yanqin , Liang Yan , Luo Xiaoping , Wei Ming 

TITLE=Case Report: Clinical and Genetic Characteristics of Pearson Syndrome in a Chinese Boy and 139 Patients

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.802402

DOI=10.3389/fgene.2022.802402

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> Pearson’s syndrome (PS) is a rare multi-system disorder caused by mitochondrial DNA deletion. Most PS cases in the literature are individual reports, and there is a lack of systematic analysis of clinical features and gene mutations in large samples.</p><p><bold>Objective:</bold> To report a case of PS and summarize the clinical features and genetic characteristics of PS by reviewing the literature.</p><p><bold>Methods:</bold> We reported a case of PS in a boy with severe anemia and multi-system disorder. Genetic etiology was identified by mitochondrial DNA sequencing and whole-exon sequencing. Clinical features and gene mutations were summarized by literature review.</p><p><bold>Results:</bold> The patient had major clinical manifestations with recurrent anemia and multiple organ failure after infection. Mitochondrial DNA sequencing revealed a <italic>de novo</italic> heteroplasmic deletion of 3.063 kb (nt 6,224–9,287) with 75% heteroplasmy in peripheral blood. A total of 139 PS cases were retrieved after a literature search. The most common initial symptom was refractory anemia requiring repeated blood transfusion (86.2%), digestive system symptoms (26.9%), and failure to thrive (15.4%). During the course of disease, the observed symptoms were bone marrow failure (100%), metabolic disorders (61.87%) and gastrointestinal symptoms (61.87%), failure to thrive (48.9%), renal disorders (42.45%), and pancreatic exocrine insufficiency (39.6%). The mean heteroplasmy of mitochondrial DNA mutation in peripheral blood in deaths (76.29 ± 11.86%, <italic>n</italic> = 29) was higher than that in survivals (59.92 ± 23.87%, <italic>n</italic> = 26, <italic>p</italic> &lt; 0.01). Among the patients with the 4.977 kb deletion, the heteroplasmy in peripheral blood in deaths (79.64 ± 9.71%, <italic>n</italic> = 11) was higher than that in survivals (56.67 ± 27.65%, n = 9, <italic>p</italic> &lt; 0.05).</p><p><bold>Conclusion:</bold> PS can affect multiple systems, and mitochondrial DNA sequencing should be performed early. The heteroplasmy in peripheral blood is related to prognosis.</p>