The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case

Erlich, 2011, Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis, Genome Res., 21, 658, 10.1101/gr.117143.110 Klebe, 2006, Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3, Brain, 129, 1456, 10.1093/brain/awl012 Klebe, 2012, KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations, Eur. J. Hum. Genet., 20, 645, 10.1038/ejhg.2011.261 Riviere, 2011, KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2, Am. J. Hum. Genet., 89, 219, 10.1016/j.ajhg.2011.06.013 Hamdan, 2011, Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability, Am. J. Hum. Genet., 88, 306, 10.1016/j.ajhg.2011.02.001 Lee, 2015, De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy, Hum. Mutat., 36, 69, 10.1002/humu.22709 Ohba, 2015, De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance, J. Hum. Genet., 60, 739, 10.1038/jhg.2015.108 Li, 2009, Fast and accurate short read alignment with Burrows-Wheeler transform, Bioinformatics, 25, 1754, 10.1093/bioinformatics/btp324 Li, 2009, The sequence alignment/map format and SAMtools, Bioinformatics, 25, 2078, 10.1093/bioinformatics/btp352 Liu, 2011, Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development, PLoS ONE, 6, e22542, 10.1371/journal.pone.0022542 Kamada, 2011, A genome-wide association study identifies RNF213 as the first Moyamoya disease gene, J. Hum. Genet., 56, 34, 10.1038/jhg.2010.132 Posey, 2017, Resolution of disease phenotypes resulting from multilocus genomic variation, N. Engl. J. Med., 376, 21, 10.1056/NEJMoa1516767