The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblings

Clinical Genetics - Tập 64 Số 3 - Trang 210-215 - 2003
RS Devon1, JR Helm1, GA Rouleau2, Yael Leitner3, Tally Lerman‐Sagie4, Dorit Lev4, Michael R. Hayden1
1Center for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, and Children and Women's Hospital, Vancouver, British Columbia, Canada,
2Center for Research in Neuroscience, McGill University and the Montréal General Hospital Research Institute, Montréal, Canada,
3Pediatric Neurology Unit, Tel Aviv Medical Center, Tel Aviv, Israel, and
4Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel

Tóm tắt

Eight mutations in the ALS2 gene have been described as causing autosomal‐recessive juvenile‐onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small deletions that are predicted to result in a frameshift and premature truncation of the alsin protein. Here we describe a ninth ALS2 mutation, in two siblings affected by infantile‐onset ascending spastic paraplegia with bulbar involvement. This mutation is predicted to result in the substitution of an amino acid by a stop codon, and thus is the first nonsense mutation detected in this gene. It is probable that full‐length alsin is required for the proper development and/or functioning of upper motor neurons.

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Tài liệu tham khảo

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Thông tin xuất bản

Clinical Genetics

Tập 64 Số 3

210-215

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