Clinical and molecular spectrum associated with Polymerase-γ related disorders

Background POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. Method...

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Bibliographic Details
Published in:Journal of child neurology 2022-03, Vol.37 (4), p.246-255
Main Authors: Jha, Ruchika, Patel, Harshkumar, Dubey, Rachana, Goswami, Jyotindra N., Bhagwat, Chandana, Saini, Lokesh, K. Manokaran, Ranjith, John, Biju M., Kovilapu, Uday B., Mohimen, Aneesh, Saxena, Apoorv, Sondhi, Vishal
Format: Article
Language:English
Subjects:
Ataxia - genetics
Child
Diffuse Cerebral Sclerosis of Schilder - complications
Diffuse Cerebral Sclerosis of Schilder - genetics
DNA Polymerase gamma - genetics
DNA, Mitochondrial - genetics
DNA-Directed DNA Polymerase - genetics
Humans
Leigh Disease - complications
Liver Diseases - complications
Mitochondrial Diseases
Mutation - genetics
Ophthalmoplegia, Chronic Progressive External - complications
Ophthalmoplegia, Chronic Progressive External - genetics
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Summary:Background POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. Methods Individuals were recruited across 6 centers in India. Children diagnosed between January 2015 and August 2020 with pathogenic or likely pathogenic POLG variants and age of onset
ISSN:0883-0738
1708-8283
DOI:10.1177/08830738211067065