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Quantifying the contribution of recessive coding variation to developmental disorders.

Hilary C Martin1, Wendy D Jones2,3, Rebecca McIntyre2

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. hcm@sanger.ac.uk jeff.barrett@genomicsplc.com.

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This summary is machine-generated.

Recessive coding variants contribute minimally to developmental disorders in most families, but are significant in consanguineous populations. New genes like KDM5B and EIF3F were identified, highlighting the need for further genetic research.

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Area of Science:

  • Genetics
  • Genomics
  • Developmental Biology

Background:

  • Recessive genetic variations play a role in inherited diseases.
  • Understanding the contribution of different types of genetic variants is crucial for diagnosing developmental disorders.

Purpose of the Study:

  • To estimate the genome-wide contribution of recessive coding variation to developmental disorders.
  • To identify novel genes associated with recessive developmental disorders.

Main Methods:

  • Analysis of genome-wide data from 6040 families in the Deciphering Developmental Disorders study.
  • Identification and functional validation of candidate genes using mouse and cellular models.

Main Results:

  • Recessive coding variants accounted for 3.6% of cases in European ancestry patients, versus 50% for de novo mutations.
  • In patients with Pakistani ancestry, recessive variants explained 31% of cases due to higher autozygosity.
  • Two novel genes, KDM5B and EIF3F, were identified and functionally validated.

Conclusions:

  • Recessive coding variants represent a small fraction of genetic causes in undiagnosed nonconsanguineous individuals.
  • Further research into noncoding variants, incomplete penetrance, and polygenic mechanisms is warranted.
  • The study identified novel genetic contributors to recessive developmental disorders.