Journal Article

DZNE-2020-02415

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Schlipf, N. A. ; Beetz, C. ; Schüle, R.DZNE* ; Stevanin, G. ; Erichsen, A. K. ; Forlani, S. ; Zaros, C. ; Karle, K.DZNE* ; Klebe, S. ; Klimpe, S. ; Durr, A. ; Otto, S. ; Tallaksen, C. M. E. ; Riess, O. ; Brice, A. ; Bauer, P. (Corresponding author) ; Schöls, L. (Last author)DZNE*

2010
Stockton Press Basingstoke

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Please use a persistent id in citations: doi:10.1038/ejhg.2010.68

Abstract: The most frequent causes of autosomal dominant (AD) hereditary spastic paraplegias (HSP) (ADHSP) are mutations in the SPAST gene (SPG4 locus). However, roughly 60% of patients are negative for SPAST mutations, despite their family history being compatible with AD inheritance. A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42. In this study, we screened 220 independent SPAST mutation-negative ADHSP samples for mutations in the SLC33A1 gene by high-resolution melting curve analysis. Conspicuous samples were validated by direct sequencing. Moreover, copy number variations affecting SLC33A1 were screened by multiplex ligation-dependent probe amplification assay. We could not identify potentially disease-causing mutations in our patients either by mutation scanning or by gene dosage analysis, as for the latter specific positive controls are not available to date. As our sample represents ADHSP patients for whom SPAST mutations and almost in all cases ATL1 and REEP1 mutations had been excluded, we consider SLC33A1 gene mutations as being very rare in a European ADHSP cohort, if present at all. To date, as SPG42 has still not been identified in a second, unrelated family, systematic genetic testing for SLC33A1 mutations is not recommended.

Keyword(s): Genes, Dominant (MeSH) ; Humans (MeSH) ; Membrane Transport Proteins: genetics (MeSH) ; Mutation (MeSH) ; Paraplegia: genetics (MeSH) ; Membrane Transport Proteins ; SLC33A1 protein, human

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Contributing Institute(s):

1. Functional Neurogeriatrics (AG Maetzler)
2. Ext Hertie-Institut für klinische Hirnforschung (Ext HIH)
3. Clinical Neurogenetics (AG Schöls 1)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)
2. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2010

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; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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