A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

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A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink The American Journal of Human Genetics Volume 72, Issue 1, Pages 191-199 (January 2003) DOI: 10.1086/345488 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree structure of a family with autosomal dominant ataxia and haplotype reconstruction of chromosome 13q34 STR markers. Black symbols represent affected individuals; open symbols represent unaffected individuals. Question marks within symbols denote individuals with clinical status that is unknown because of either lack of data or uncertain diagnosis (see text). Black bars indicate a shared “risk” haplotype. The American Journal of Human Genetics 2003 72, 191-199DOI: (10.1086/345488) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 MRI of the brain of patient II:7 showed atrophy of cerebellar hemispheres (T1-weighted axial images). The American Journal of Human Genetics 2003 72, 191-199DOI: (10.1086/345488) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3 A, Sequence electropherograms of mutations found in FGF14. Both normal (left) and mutated (right) DNA and amino acid sequences are shown. B (top), Amino acid sequence comparison of FGF11–FGF14 homologs in Homo sapiens, Mus musculus, and Gallus gallus, showing the conservation of the amino acid mutated in FGF14 (F145S) in the family with ataxia. The change of a phenylalanine to a serine in patients is indicated by an arrow. Only the alignment with amino acids 139–159 of FGF14 is shown. B (bottom), Amino acid sequence comparison around the mutated F145S for all FGFs found in Homo sapiens. Amino acid alignments were performed with ClustalW. The American Journal of Human Genetics 2003 72, 191-199DOI: (10.1086/345488) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 3C Molecular models of wild-type and mutant FGF14. The purple and yellow ribbons correspond to α-helix and β-sheet structures, respectively. Indicated is the position of the wild-type (F145) (left panel) and mutated (Ser145) residue mutated in the family. The American Journal of Human Genetics 2003 72, 191-199DOI: (10.1086/345488) Copyright © 2003 The American Society of Human Genetics Terms and Conditions