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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12
Human Mutation, Volume 34, No. 10, Year 2013
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Description
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three-nucleotide deletion (c.197_199del; p.Gly66del). Haplotype analysis revealed that the p.Ala63Pro mutations have a common origin, but MRI scans showed no brain iron deposition in the Malian SPG43 subjects. Heterologous expression of these SPG43 and NBIA variants resulted in similar alterations in the subcellular distribution of C19orf12. The SPG43 and NBIA variants reported here as well as the most common C19orf12 missense mutation reported in NBIA patients are found within a highly conserved, extended hydrophobic domain in C19orf12, underscoring the functional importance of this domain. © 2013 Wiley Periodicals, Inc.
Authors & Co-Authors
Landouré, Guida
Mali, Bamako
Centre Hospitalier Universitaire du Point g
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Zhu, Peng Peng
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Lourenc¸o, Charles Marques
Brazil
University of Sao Polo
Johnson, Janel O.
United States, Bethesda
National Institute on Aging Nia
Toro, Camilo
United States, Bethesda
National Institutes of Health Nih
Bricceno, Katherine
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Rinaldi, Carlo
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Meilleur, Katherine Gloria
United States, Bethesda
National Institute of Nursing Research Ninr
Sangaré, Modibo
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Diallo, Oumarou
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Pierson, Tyler M.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
United States, Bethesda
National Institutes of Health Nih
Ishiura, Hiroyuki
Japan, Tokyo
Graduate School of Medicine
Tuji, Shoji
Japan, Tokyo
Graduate School of Medicine
Hein, Nichole
United States, Ann Arbor
University of Michigan Medical School
Fink, John K.
United States, Ann Arbor
University of Michigan Medical School
United States, Ann Arbor
University of Michigan, Ann Arbor
Stoll, Marion
Australia, Sydney
The University of Sydney
Nicholson, Garth A.
Australia, Sydney
The University of Sydney
González, Michael Anthony
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Speziani, Fiorella
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Dürr, Alexandra
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Stévanin, Giovanni
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
École Pratique Des Hautes Études
Biesecker, Leslie Glenn
United States, Bethesda
National Institutes of Health Nih
Accardi, John
United States, Bethesda
National Institutes of Health Nih
Landis, Dennis M.D.
United States, Bethesda
National Institutes of Health Nih
Gahl, William Allen
United States, Bethesda
National Institutes of Health Nih
Traynor, B. J.
United States, Bethesda
National Institute on Aging Nia
Marques, Wilson J.
Brazil
University of Sao Polo
Züchner, Stephan L.
United States, Miami
University of Miami Leonard M. Miller School of Medicine
Blackstone, Craig
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Fischbeck, Kenneth H.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Burnett, Barrington G.
United States, Bethesda
National Institute of Neurological Disorders and Stroke
Statistics
Citations: 71
Authors: 31
Affiliations: 13
Identifiers
Doi:
10.1002/humu.22378
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Health System And Policy