Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient

In 1‐year‐old girl presenting with neurodegenerative mitochondrial disease (Leigh syndrome), mutation analysis was performed by whole exome sequencing. Pathogenic variants were then analyzed in parents and relatives by Sanger sequencing. We identified a point mutation c.G484A in NDUFS8 gene which wa...

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Autores principales: Shabannejadian, Forough, Masoomizadeh, Seyedeh Zahra, Andashti, Behnaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172453/
https://www.ncbi.nlm.nih.gov/pubmed/37180333
http://dx.doi.org/10.1002/ccr3.7308
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author Shabannejadian, Forough
Masoomizadeh, Seyedeh Zahra
Andashti, Behnaz
author_facet Shabannejadian, Forough
Masoomizadeh, Seyedeh Zahra
Andashti, Behnaz
author_sort Shabannejadian, Forough
collection PubMed
description In 1‐year‐old girl presenting with neurodegenerative mitochondrial disease (Leigh syndrome), mutation analysis was performed by whole exome sequencing. Pathogenic variants were then analyzed in parents and relatives by Sanger sequencing. We identified a point mutation c.G484A in NDUFS8 gene which was homozygous in patient and heterozygous in parents.
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spelling pubmed-101724532023-05-12 Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient Shabannejadian, Forough Masoomizadeh, Seyedeh Zahra Andashti, Behnaz Clin Case Rep Case Report In 1‐year‐old girl presenting with neurodegenerative mitochondrial disease (Leigh syndrome), mutation analysis was performed by whole exome sequencing. Pathogenic variants were then analyzed in parents and relatives by Sanger sequencing. We identified a point mutation c.G484A in NDUFS8 gene which was homozygous in patient and heterozygous in parents. John Wiley and Sons Inc. 2023-05-10 /pmc/articles/PMC10172453/ /pubmed/37180333 http://dx.doi.org/10.1002/ccr3.7308 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Shabannejadian, Forough
Masoomizadeh, Seyedeh Zahra
Andashti, Behnaz
Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient
title Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient
title_full Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient
title_fullStr Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient
title_full_unstemmed Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient
title_short Molecular analysis of gene variants in an Iranian family with psychomotor retardation mitochondrial disorder patient
title_sort molecular analysis of gene variants in an iranian family with psychomotor retardation mitochondrial disorder patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172453/
https://www.ncbi.nlm.nih.gov/pubmed/37180333
http://dx.doi.org/10.1002/ccr3.7308
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