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  • Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8

    Author(s)
    Richmond, Christopher M
    Leventer, Richard
    Ryan, Monique M
    Delatycki, Martin B
    Griffith University Author(s)
    Richmond, Chris M.
    Year published
    2019
    Metadata
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    Abstract
    Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases reported in the medical literature are all caused by pathogenic homozygous or compound heterozygous missense variants in CA8. We report a 9 year-old boy with marked gross motor delay, ataxia and progressive cerebellar atrophy with limited bipedal gait, but without intellectual disability. Singleton whole exome sequencing was performed. A novel homozygous ...
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    Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases reported in the medical literature are all caused by pathogenic homozygous or compound heterozygous missense variants in CA8. We report a 9 year-old boy with marked gross motor delay, ataxia and progressive cerebellar atrophy with limited bipedal gait, but without intellectual disability. Singleton whole exome sequencing was performed. A novel homozygous truncating variant in CA8 (c.232C>T) with a predicted premature termination codon at position 78 (p.Arg78*) was identified. Both parents and the proband's healthy sister are heterozygous for the variant. This variant is likely pathogenic and the cause of the condition in this child. Functional evidence in the form of a spontaneous mouse model involving homozygous intragenic deletion of the mouse analogue of CA8 with nonsense-mediated decay and similar clinical features to the proband support pathogenicity. Identification of this truncating variant broadens the genotypic and phenotypic spectrum of CA8-related cerebellar ataxia.
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    Journal Title
    Clinical Genetics
    Volume
    97
    Issue
    3
    DOI
    https://doi.org/10.1111/cge.13666
    Subject
    Genetics
    Clinical sciences
    Science & Technology
    Life Sciences & Biomedicine
    Genetics & Heredity
    cerebellar ataxia
    cerebellar hypoplasia
    Publication URI
    http://hdl.handle.net/10072/397202
    Collection
    • Journal articles

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