A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and depletion of mitochondrial DNA (mtDNA) are autosomal recessive conditions due to mutations in several nuclear genes necessary for proper mtDNA maintenance.In this report, we describe two Italian sibling...
Published in: | Molecular Genetics and Metabolism |
---|---|
Main Authors: | , , , , , , , , , , |
Other Authors: | , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
ACADEMIC PRESS INC ELSEVIER SCIENCE
2012
|
Subjects: | |
Online Access: | http://hdl.handle.net/11577/3354236 https://doi.org/10.1016/j.ymgme.2012.08.020 |
id |
ftunivpadovairis:oai:www.research.unipd.it:11577/3354236 |
---|---|
record_format |
openpolar |
spelling |
ftunivpadovairis:oai:www.research.unipd.it:11577/3354236 2024-04-21T08:01:49+00:00 A novel homozygous mutation in SUCLA2 gene identified by exome sequencing Lamperti C. Fang M. Invernizzi F. Liu X. Wang H. Zhang Q. Carrara F. Moroni I. Zeviani M. Zhang J. Ghezzi D. Lamperti, C. Fang, M. Invernizzi, F. Liu, X. Wang, H. Zhang, Q. Carrara, F. Moroni, I. Zeviani, M. Zhang, J. Ghezzi, D. 2012 http://hdl.handle.net/11577/3354236 https://doi.org/10.1016/j.ymgme.2012.08.020 eng eng ACADEMIC PRESS INC ELSEVIER SCIENCE info:eu-repo/semantics/altIdentifier/pmid/23010432 info:eu-repo/semantics/altIdentifier/wos/WOS:000310720200023 volume:107 issue:3 firstpage:403 lastpage:408 numberofpages:6 journal:MOLECULAR GENETICS AND METABOLISM http://hdl.handle.net/11577/3354236 doi:10.1016/j.ymgme.2012.08.020 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867897582 Encephalomyopathy Exome-sequencing Mitochondrial disorder Mitochondrial DNA depletion SUCLA2 Adolescent Amino Acid Sequence Child DNA Mitochondrial Female Homozygote Human Mitochondrial Encephalomyopathie Molecular Sequence Data Muscle Skeletal Pedigree Sequence Alignment Sequence Analysis Sibling Succinate-CoA Ligase Exome Mutation Missense info:eu-repo/semantics/article 2012 ftunivpadovairis https://doi.org/10.1016/j.ymgme.2012.08.020 2024-03-28T02:08:36Z Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and depletion of mitochondrial DNA (mtDNA) are autosomal recessive conditions due to mutations in several nuclear genes necessary for proper mtDNA maintenance.In this report, we describe two Italian siblings presenting with encephalomyopathy and mtDNA depletion in muscle. By whole exome-sequencing and prioritization of candidate genes, we identified a novel homozygous missense mutation in the SUCLA2 gene in a highly conserved aminoacid residue. Although a recurrent mutation in the SUCLA2 gene is relatively frequent in the Faroe Islands, mutations in other populations are extremely rare. In contrast with what has been reported in other patients, methyl-malonic aciduria, a biomarker for this genetic defect, was absent in our proband and very mildly elevated in her affected sister.This report demonstrates that next-generation technologies, particularly exome-sequencing, are user friendly, powerful means for the identification of disease genes in genetically and clinically heterogeneous inherited conditions, such as mitochondrial disorders. © 2012 Elsevier Inc. Article in Journal/Newspaper Faroe Islands Padua Research Archive (IRIS - Università degli Studi di Padova) Molecular Genetics and Metabolism 107 3 403 408 |
institution |
Open Polar |
collection |
Padua Research Archive (IRIS - Università degli Studi di Padova) |
op_collection_id |
ftunivpadovairis |
language |
English |
topic |
Encephalomyopathy Exome-sequencing Mitochondrial disorder Mitochondrial DNA depletion SUCLA2 Adolescent Amino Acid Sequence Child DNA Mitochondrial Female Homozygote Human Mitochondrial Encephalomyopathie Molecular Sequence Data Muscle Skeletal Pedigree Sequence Alignment Sequence Analysis Sibling Succinate-CoA Ligase Exome Mutation Missense |
spellingShingle |
Encephalomyopathy Exome-sequencing Mitochondrial disorder Mitochondrial DNA depletion SUCLA2 Adolescent Amino Acid Sequence Child DNA Mitochondrial Female Homozygote Human Mitochondrial Encephalomyopathie Molecular Sequence Data Muscle Skeletal Pedigree Sequence Alignment Sequence Analysis Sibling Succinate-CoA Ligase Exome Mutation Missense Lamperti C. Fang M. Invernizzi F. Liu X. Wang H. Zhang Q. Carrara F. Moroni I. Zeviani M. Zhang J. Ghezzi D. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing |
topic_facet |
Encephalomyopathy Exome-sequencing Mitochondrial disorder Mitochondrial DNA depletion SUCLA2 Adolescent Amino Acid Sequence Child DNA Mitochondrial Female Homozygote Human Mitochondrial Encephalomyopathie Molecular Sequence Data Muscle Skeletal Pedigree Sequence Alignment Sequence Analysis Sibling Succinate-CoA Ligase Exome Mutation Missense |
description |
Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and depletion of mitochondrial DNA (mtDNA) are autosomal recessive conditions due to mutations in several nuclear genes necessary for proper mtDNA maintenance.In this report, we describe two Italian siblings presenting with encephalomyopathy and mtDNA depletion in muscle. By whole exome-sequencing and prioritization of candidate genes, we identified a novel homozygous missense mutation in the SUCLA2 gene in a highly conserved aminoacid residue. Although a recurrent mutation in the SUCLA2 gene is relatively frequent in the Faroe Islands, mutations in other populations are extremely rare. In contrast with what has been reported in other patients, methyl-malonic aciduria, a biomarker for this genetic defect, was absent in our proband and very mildly elevated in her affected sister.This report demonstrates that next-generation technologies, particularly exome-sequencing, are user friendly, powerful means for the identification of disease genes in genetically and clinically heterogeneous inherited conditions, such as mitochondrial disorders. © 2012 Elsevier Inc. |
author2 |
Lamperti, C. Fang, M. Invernizzi, F. Liu, X. Wang, H. Zhang, Q. Carrara, F. Moroni, I. Zeviani, M. Zhang, J. Ghezzi, D. |
format |
Article in Journal/Newspaper |
author |
Lamperti C. Fang M. Invernizzi F. Liu X. Wang H. Zhang Q. Carrara F. Moroni I. Zeviani M. Zhang J. Ghezzi D. |
author_facet |
Lamperti C. Fang M. Invernizzi F. Liu X. Wang H. Zhang Q. Carrara F. Moroni I. Zeviani M. Zhang J. Ghezzi D. |
author_sort |
Lamperti C. |
title |
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing |
title_short |
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing |
title_full |
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing |
title_fullStr |
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing |
title_full_unstemmed |
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing |
title_sort |
novel homozygous mutation in sucla2 gene identified by exome sequencing |
publisher |
ACADEMIC PRESS INC ELSEVIER SCIENCE |
publishDate |
2012 |
url |
http://hdl.handle.net/11577/3354236 https://doi.org/10.1016/j.ymgme.2012.08.020 |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_relation |
info:eu-repo/semantics/altIdentifier/pmid/23010432 info:eu-repo/semantics/altIdentifier/wos/WOS:000310720200023 volume:107 issue:3 firstpage:403 lastpage:408 numberofpages:6 journal:MOLECULAR GENETICS AND METABOLISM http://hdl.handle.net/11577/3354236 doi:10.1016/j.ymgme.2012.08.020 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867897582 |
op_doi |
https://doi.org/10.1016/j.ymgme.2012.08.020 |
container_title |
Molecular Genetics and Metabolism |
container_volume |
107 |
container_issue |
3 |
container_start_page |
403 |
op_container_end_page |
408 |
_version_ |
1796941926406029312 |