Nature Communications (Jan 2021)

The contribution of X-linked coding variation to severe developmental disorders

  • Hilary C. Martin,
  • Eugene J. Gardner,
  • Kaitlin E. Samocha,
  • Joanna Kaplanis,
  • Nadia Akawi,
  • Alejandro Sifrim,
  • Ruth Y. Eberhardt,
  • Ana Lisa Taylor Tavares,
  • Matthew D. C. Neville,
  • Mari E. K. Niemi,
  • Giuseppe Gallone,
  • Jeremy McRae,
  • Deciphering Developmental Disorders Study,
  • Caroline F. Wright,
  • David R. FitzPatrick,
  • Helen V. Firth,
  • Matthew E. Hurles

DOI
https://doi.org/10.1038/s41467-020-20852-3
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 13

Abstract

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Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male and female cases and therefore does not solely explain male bias in DDs.