scholarly journals Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report

2021 ◽  
Vol 10 (1) ◽  
pp. 204-208
Author(s):  
Rui Liu ◽  
Gui-Ling Mo ◽  
Yuan-Zong Song
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Large Deletion ◽  
Pearson Syndrome

scholarly journals Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report

2014 ◽  
Vol 11 (5) ◽  
pp. 3741-3745 ◽  
Author(s):  
JOONHONG PARK ◽  
HYEJIN RYU ◽  
WOORI JANG ◽  
HYOJIN CHAE ◽  
MYUNGSHIN KIM ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Mitochondrial Dna Deletion ◽  
Pearson Syndrome ◽  
Dna Deletion

The role of mitochondrial DNA large deletion for the development of presbycusis in Fischer 344 rats

2007 ◽  
Vol 27 (3) ◽  
pp. 370-377 ◽  
Author(s):  
Shankai Yin ◽  
Zhiping Yu ◽  
Ravi Sockalingam ◽  
Manohar Bance ◽  
Genlou Sun ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Large Deletion ◽  
Fischer 344 Rats ◽  
Fischer 344

An homoplasmic large deletion in mtDNA Control Region: Case report

2009 ◽  
Vol 2 (1) ◽  
pp. 219-220
Author(s):  
J.M.B. Motti ◽  
E.L. Alfaro ◽  
J.E. Dipierri ◽  
M. Muzzio ◽  
V. Ramallo ◽  
...  
Keyword(s):  
Case Report ◽  
Control Region ◽  
Large Deletion ◽  
Mtdna Control Region

scholarly journals Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report

2014 ◽  
Vol 7 (1) ◽  
pp. 583 ◽  
Author(s):  
Raisa da Silva Martins ◽  
Ana Carolina Fonseca ◽  
Franklyn Enrique Acosta ◽  
Tania Folescu ◽  
Laurinda Yoko Higa ◽  
...  
Keyword(s):  
Case Report ◽  
Large Deletion ◽  
Cftr Gene ◽  
Severe Phenotype

Skin manifestations of mitochondrial DNA syndromes: Case report and review

1998 ◽  
Vol 39 (5) ◽  
pp. 819-823 ◽  
Author(s):  
Matthew K. Flynn ◽  
Sue Ann Wee ◽  
Alfred T. Lane
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Skin Manifestations

scholarly journals Case Report: m.13513 G>A Mutation in a Chinese Patient With Both Leigh Syndrome and Wolff-Parkinson-White Syndrome

2021 ◽  
Vol 9 ◽  
Author(s):  
Jian-Min Liang ◽  
Cui-Juan Xin ◽  
Guang-Liang Wang ◽  
Xue-Mei Wu
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Respiratory Failure ◽  
Developmental Delay ◽  
Nuclear Dna ◽  
Leigh Syndrome ◽  
Chinese Patient ◽  
White Syndrome ◽  
Wpw Syndrome ◽  
Wolff Parkinson White Syndrome

A number of causative mutations in mitochondrial and nuclear DNA have been identified for Leigh syndrome, a neurodegenerative encephalopathy, including m. 8993 T>G, m.8993 T>C, and m.3243A>G mutations in the MTATP6, MTATP6, and MT-TL1 genes, respectively, which have been reported in Leigh syndrome patients in China. The m.13513 G>A mutation has been described only a few times in the literature and not previously reported in China. Here we report the case of a 15-month-old boy who presented with ptosis and developmental delay and was diagnosed with Leigh syndrome and well as Wolff-Parkinson-White (WPW) syndrome. The m.13513 G>A mutation was found in DNA from blood. He was intubated due to respiratory failure and died at 23 months of age. The m.13513 G>A mutation in the ND5 gene of mitochondrial DNA is associated with Leigh syndrome and WPW syndrome; however, this is the first report of this mutation in a patient in China, highlighting the geographical and racial variability of Leigh syndrome.

scholarly journals Advances in Diagnosis of Mitochondrial Diseases: Case Report of an Infant with Pearson Syndrome

2021 ◽  
pp. 218
Author(s):  
◽  
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Molecular Genetic ◽  
Mitochondrial Disorder ◽  
Macrocytic Anemia ◽  
Mitochondrial Diseases ◽  
Failure To Thrive ◽  
Pearson Syndrome ◽  
Delay In Diagnosis ◽  
Medical Histories

Pearson syndrome (PS) is a mitochondrial disorder that presents in early infancy as a multisystemic disease affecting the bone marrow and pancreas. It may present with anemia, diarrhea, exocrine pancreatic dysfunction, and failure to thrive.[1] Delay in diagnosis can lead to severe morbidity and mortality in infancy. We report the case of a 9-month-old presenting with failure to thrive, severe macrocytic anemia and pancytopenia initially thought to have gastroesophageal reflux and feeding intolerance. Severe macrocytic anemia and pancytopenia prompted an early bone marrow evaluation. Abnormal bone marrow findings including vacuolated marrow precursors and ringed sideroblasts along with persistent mild lactic acidosis led to a rapid and extensive genetics workup. Whole exome sequencing including mitochondrial genome sequencing detected a 2.3 kb heteroplasmic deletion in m.12113_14421 encompassing the MT-ND5 gene consistent with the diagnosis of Pearson Syndrome. This case report highlights the advances in molecular genetic testing to diagnose patients with complex medical histories along the spectrum of mitochondrial diseases and the importance of early diagnosis to start treatment.

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