Missense exchanges in the TTBK2 gene mutated in SCA11.
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Missense exchanges in the TTBK2 gene mutated in SCA11. / Edener, Ulf; Kurth, Ingo; Meiner, Annechristin; Hoffmann, Frank; Hübner, Christian; Bernard, Veronica; Gillessen-Kaesbach, Gabriele; Zühlke, Christine.
in: J NEUROL, 2009.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Missense exchanges in the TTBK2 gene mutated in SCA11.
AU - Edener, Ulf
AU - Kurth, Ingo
AU - Meiner, Annechristin
AU - Hoffmann, Frank
AU - Hübner, Christian
AU - Bernard, Veronica
AU - Gillessen-Kaesbach, Gabriele
AU - Zühlke, Christine
PY - 2009
Y1 - 2009
N2 - The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurological disorders with overlapping as well as highly variable phenotypes primarily affecting the cerebellum. To date, 28 different loci have been identified. Nine SCAs are caused by repeat expansions; for 14 only the chromosomal localisation is known. Recently, two frameshift mutations in the tau tubulin kinase 2 gene (TTBK2) were reported to cause SCA11. To evaluate the frequency of mutations in the TTBK2 gene, we performed molecular genetic analyses in 49 unrelated familial cases with ataxia. Sequencing all coding exons revealed, amongst others, two novel missense exchanges at evolutionarily conserved amino acid positions. Although being unique in 98 alleles of ataxia patients, a disease causing effect can be excluded with high probability for both variations. This result demonstrates the challenges in diagnostic testing for SCA11.
AB - The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurological disorders with overlapping as well as highly variable phenotypes primarily affecting the cerebellum. To date, 28 different loci have been identified. Nine SCAs are caused by repeat expansions; for 14 only the chromosomal localisation is known. Recently, two frameshift mutations in the tau tubulin kinase 2 gene (TTBK2) were reported to cause SCA11. To evaluate the frequency of mutations in the TTBK2 gene, we performed molecular genetic analyses in 49 unrelated familial cases with ataxia. Sequencing all coding exons revealed, amongst others, two novel missense exchanges at evolutionarily conserved amino acid positions. Although being unique in 98 alleles of ataxia patients, a disease causing effect can be excluded with high probability for both variations. This result demonstrates the challenges in diagnostic testing for SCA11.
M3 - SCORING: Zeitschriftenaufsatz
JO - J NEUROL
JF - J NEUROL
SN - 0340-5354
ER -
