A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population-Reference-Cited by-同舟云学术

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

Published:2016-09-27 Issue:3 Volume:173 Page:596-600
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Lamont Ryan E.¹²,Beaulieu Chandree L.¹³,Bernier Francois P.¹²,Sparkes Rebecca¹,Innes A. Micheil¹²,Jackel-Cram Candice⁴,Ober Carole⁵,Parboosingh Jillian S.¹²,Lemire Edmond G.⁴

Affiliation:

1. Department of Medical Genetics; Cumming School of Medicine; University of Calgary; Calgary AB Canada

2. Alberta Children's Hospital Research Institute; University of Calgary; Calgary AB Canada

3. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa ON Canada

4. Division of Medical Genetics; Department of Pediatrics; University of Saskatchewan; Saskatoon SK Canada

5. Department of Human Genetics; University of Chicago; Chicago Illinois

Funder

Alberta Children's Hospital Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family;Anderson;J Inherit Metab Dis,2008

2. Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I;Assereto;Clin Genet,2014

3. A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome;Assouline;Biochim Biophys Acta,2012

4. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome;Benit;Hum Genet,2003

5. Clinical genetics and the Hutterite population: A review of Mendelian disorders;Boycott;Am J Med Genet Part A,2008

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