A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

@article{Puffenberger2012AHM,
  title={A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.},
  author={Erik G Puffenberger and Robert N. Jinks and Heng Wang and Baozhong Xin and Christopher J. Fiorentini and Eric A. Sherman and Dominick Degrazio and Calvin B. Shaw and Carrie L. Sougnez and Kristian Cibulskis and Stacey Gabriel and Richard I Kelley and D. Holmes Morton and Kevin A Strauss},
  journal={Human mutation},
  year={2012},
  volume={33 12},
  pages={1639-46}
}
We studied a unique phenotype of cognitive delay, autistic behavior, and gait instability segregating in three separate sibships. We initiated genome-wide mapping in two sibships using Affymetrix 10K SNP Mapping Arrays and identified a homozygous 8.2 Mb region on chromosome 15 common to five affected children. We used exome sequencing of two affected children to assess coding sequence variants within the mapped interval. Four novel homozygous exome variants were shared between the two patients… CONTINUE READING

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