Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia

The SPG4 gene is frequently mutated in autosomal dominant form of hereditary spastic paraplegia (HSP). We report that the compound heterozygous sequence variants S44L, a known polymorphism, and c.1687G>A, a novel mutation in SPG4 cause a severe form of HSP in a patient. The family members carryin...

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Veröffentlicht in:	Clinical genetics 2008-03, Vol.73 (3), p.268-272
Hauptverfasser:	Pantakani, DVK, Zechner, U, Arygriou, L, Pauli, S, Sauter, SM, Mannan, AU
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphatases - genetics Alleles Amino Acid Substitution Base Sequence Biological and medical sciences Computational Biology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis European Continental Ancestry Group - genetics Exons - genetics Female Fundamental and applied biological sciences. Psychology Gene Expression Regulation General aspects. Genetic counseling Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Germany HeLa Cells Heterozygote HSP Humans hypomorphic Intracellular Space Male Medical genetics Medical sciences Molecular and cellular biology Molecular Sequence Data Mutation Mutation - genetics Neurology Paralysis Pedigree Polymorphism, Single Nucleotide - genetics Protein Transport Proteins RNA Splice Sites - genetics RNA, Messenger - genetics RNA, Messenger - metabolism Spastic Paraplegia, Hereditary - genetics Spastin SPG4 splice site
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