Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

Clinical Genetics

Volumn 85, Issue 3, 2014, Pages 296-297

  Maruyama, H ^a   Morino, H ^a   Miyamoto, R ^a   Murakami, N ^b   Hamano, T ^b   Kawakami, H ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b KANSAI ELECTRIC POWER CO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

VALPROIC ACID; ANO10 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ADULT; ANO10 GENE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CONSANGUINITY; CONSTIPATION; ELECTROMYOGRAPHY; EXOME; GENE; GENE SEQUENCE; HUMAN; HYPERREFLEXIA; JAPANESE; MALE; MIDDLE AGED; MISSENSE MUTATION; MUSCLE ATROPHY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; UNCONSCIOUSNESS; VIBRATION SENSE; ATROPHY; CEREBELLUM; GENETICS; JAPAN; MUTATION; PATHOLOGY; POSITRON EMISSION TOMOGRAPHY; RECESSIVE GENE; SPINOCEREBELLAR ATAXIAS;

ATROPHY; CEREBELLUM; EXOME; GENES, RECESSIVE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; POSITRON-EMISSION TOMOGRAPHY; SPINOCEREBELLAR ATAXIAS;

EID: 84893021290     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12140     Document Type: Article

References (5)

1. Vermeer S, Hoischen A, Meijer RPP et al. Targeted next-generation sequencing of a 12.5Mb Homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 2010: 87: 813-819.
2. Chamova T, Florez L, Guergueltcheva V et al. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. J Neurol 2012: 259: 906-911.
3. Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012: 366: 636-646.
4. Maruyama H, Izumi Y, Morino H et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1286 Japanese patients. Am J Med Genet 2002: 114: 578-583.
5. Izumi Y, Miyamoto R, Morino H et al. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology 2013: 80: 600-601.