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Human disease

Something old, something new

Nature Reviews Genetics volume 12, pages 382–383 (2011)Cite this article

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The study was carried out on a consanguineous family in which three sons were affected by hereditary spastic paraparesis (HSP), which is characterized by abnormal gait and spasticity of the lower limbs as a result of axonal degradation. Exome sequencing or whole-genome genotyping of the three boys both failed to pick up mutations in any of the 20 known HSP genes or any other exonic variant that was likely to be causal (out of the 6,000 variants that were checked). X-linked mutations were also excluded, suggesting that the authors were looking for a new autosomal gene.

Causal mutations are more likely to be found in homozygous stretches in a consanguineous family such as this one, so the authors examined four runs of homozygous nucleotides. The 44 genes (76 kb) found in these regions were whittled down further to 15 genes using five criteria — variants were excluded from being causal if, for example, they were homozygous in the reference sequence or in the parents.

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ORIGINAL RESEARCH PAPER

  1. Erlich, Y. et al. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res. 21, 658–664 (2011)

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  1. Tanita Casci
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Casci, T. Something old, something new. Nat Rev Genet 12, 382–383 (2011). https://doi.org/10.1038/nrg3007

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