Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2-Reference-Cited by-同舟云学术

Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2

Published:2021-09-02 Issue:11 Volume:42 Page:1422-1428
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kishita Yoshihito¹²^ORCID,Shimura Masaru³^ORCID,Kohda Masakazu¹^ORCID,Fushimi Takuya³^ORCID,Nitta Kazuhiro R.¹^ORCID,Yatsuka Yukiko¹^ORCID,Hirose Shinichi⁴^ORCID,Ideguchi Hiroshi⁵^ORCID,Ohtake Akira⁶⁷^ORCID,Murayama Kei¹³⁸^ORCID,Okazaki Yasushi¹⁹^ORCID

Affiliation:

1. Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University Tokyo Japan

2. Department of Life Science, Faculty of Science and Engineering Kindai University Osaka Japan

3. Department of Metabolism Chiba Children's Hospital Chiba Japan

4. General Medical Research Center School of Medicine, Fukuoka University Fukuoka Japan

5. Department of Pediatrics Fukuoka Sanno Hospital Fukuoka Japan

6. Department of Pediatrics & Clinical Genomics, Faculty of Medicine Saitama Medical University Saitama Japan

7. Center for Intractable Diseases Saitama Medical University Hospital Saitama Japan

8. Center for Medical Genetics Chiba Children's Hospital Chiba Japan

9. Laboratory for Comprehensive Genomic Analysis RIKEN Centre for Integrative Medical Sciences Kanagawa Japan

Funder

Ministry of Education, Culture, Sports, Science and Technology

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24274

Reference28 articles.

1. Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

2. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

3. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome

4. Improving genetic diagnosis in mendelian disease with transcriptome sequencing genotype‐tissue expression consortium;Cummings B. B.;Science Translational Medicine,2016

5. Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations

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