Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.
The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a group of neurodegenerative disorders with overlapping as well as highly variable phenotypes. Genetically, at least 25 different loci have been identified. Seven SCAs are caused by CAG trinucleotide repeat expansions, for 13 the chromosomal localization is known solely. Recently, a missense mutation in the fibroblast growth factor 14 gene (FGF14) has been reported in a Dutch family with a new dominantly inherited form of SCA. To evaluate the frequency of mutations in the FGF14 gene, we performed molecular genetic analyses for the five exons in 208 nonrelated familial ataxia cases and 208 control samples. In one patient, we detected a novel single base pair deletion in exon 4 (c.487delA) creating a frameshift mutation. In addition, we found DNA polymorphisms in exon 1a, 4, and 5, an amino-acid exchange at position 124, as well as a single-nucleotide polymorphism in the 3'-untranslated region of exon 5.
Dalski
Andreas
A
Institute for Human Genetics, University of Luebeck, Germany.
Atici
Jassemien
J
Kreuz
Friedmar R
FR
Hellenbroich
Yorck
Y
Schwinger
Eberhard
E
Zühlke
Christine
C
D020413:3' Untranslated Regions / Q000235:genetics; D000293:Adolescent; D019943:Amino Acid Substitution; D001259:Ataxia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005346:Fibroblast Growth Factors / Q000235:genetics*; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
D020413:3' Untranslated Regions; C112971:fibroblast growth factor 14; D005346:Fibroblast Growth Factors