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: |
2012
|
Subjects: | |
Online Access: | http://hdl.handle.net/2434/781367 https://doi.org/10.1016/j.ymgme.2012.08.020 |
id |
ftunivmilanoair:oai:air.unimi.it:2434/781367 |
---|---|
record_format |
openpolar |
spelling |
ftunivmilanoair:oai:air.unimi.it:2434/781367 2024-02-11T10:03:42+01:00 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. C. Lamperti M. Fang F. Invernizzi X. Liu H. Wang Q. Zhang F. Carrara I. Moroni M. Zeviani J. Zhang D. Ghezzi 2012 http://hdl.handle.net/2434/781367 https://doi.org/10.1016/j.ymgme.2012.08.020 eng eng 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/2434/781367 doi:10.1016/j.ymgme.2012.08.020 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867897582 info:eu-repo/semantics/openAccess Mitochondrial disorder Encephalomyopathy Mitochondrial DNA depletion SUCLA2 Exome-sequencing Settore MED/03 - Genetica Medica info:eu-repo/semantics/article 2012 ftunivmilanoair https://doi.org/10.1016/j.ymgme.2012.08.020 2024-01-23T23:39:02Z 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. Article in Journal/Newspaper Faroe Islands The University of Milan: Archivio Istituzionale della Ricerca (AIR) Faroe Islands Molecular Genetics and Metabolism 107 3 403 408 |
institution |
Open Polar |
collection |
The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
op_collection_id |
ftunivmilanoair |
language |
English |
topic |
Mitochondrial disorder Encephalomyopathy Mitochondrial DNA depletion SUCLA2 Exome-sequencing Settore MED/03 - Genetica Medica |
spellingShingle |
Mitochondrial disorder Encephalomyopathy Mitochondrial DNA depletion SUCLA2 Exome-sequencing Settore MED/03 - Genetica Medica 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 |
Mitochondrial disorder Encephalomyopathy Mitochondrial DNA depletion SUCLA2 Exome-sequencing Settore MED/03 - Genetica Medica |
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. |
author2 |
C. Lamperti M. Fang F. Invernizzi X. Liu H. Wang Q. Zhang F. Carrara I. Moroni M. Zeviani J. Zhang D. Ghezzi |
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 |
publishDate |
2012 |
url |
http://hdl.handle.net/2434/781367 https://doi.org/10.1016/j.ymgme.2012.08.020 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
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/2434/781367 doi:10.1016/j.ymgme.2012.08.020 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84867897582 |
op_rights |
info:eu-repo/semantics/openAccess |
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_ |
1790600010360946688 |