title: A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.
abstract: We present a young boy whose mild ataxia and abnormal eye movements repeatedly deteriorated with fever, making him unable to sit or walk during fever episodes. SNP-array analysis identified a 202 kb deletion in chromosome 13q33.1 containing the fibroblast growth factor (FGF)14 gene, which is associated with spinocerebellar ataxia (SCA) 27. This 13q deletion was also present in the proband's mother and grandmother. The mother was unable to perform tandem gait walking and had abnormal eye movements but had never sought medical attention. The grandmother predominantly had a postural tremor. FGF14 regulates brain sodium channels, especially in the cerebellum. Sodium channels can be fever sensitive. This family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis.
authors.affiliation: Department of Paediatric Neurology, Haga Teaching Hospital, The Hague, The Netherlands; Department of Neurology, Ashford and St Peter's Hospitals, United Kingdom; Department of Neurology, St George's Hospitals, United Kingdom. Electronic address: jcoebergh@hotmail.com.
authors.forename: J A
authors.initials: JA
authors.lastname: Coebergh
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: D E
authors.initials: DE
authors.lastname: Fransen van de Putte
authors.affiliation: Department of Paediatric Neurology, Haga Teaching Hospital, The Hague, The Netherlands.
authors.forename: I N
authors.initials: IN
authors.lastname: Snoeck
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Ruivenkamp
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: van Haeringen
authors.affiliation: Department of Paediatric Neurology, Haga Teaching Hospital, The Hague, The Netherlands.
authors.forename: L M
authors.initials: LM
authors.lastname: Smit
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D005346:Fibroblast Growth Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000235:genetics*
chemical_list: C112971:fibroblast growth factor 14; D005346:Fibroblast Growth Factors
keywords: Ataxia; Fever; Fibroblast growth factor 14 (FGF14); Phenotypic variability; SCA 27