Quantifying the contribution of recessive coding variation to developmental disorders

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Science  07 Dec 2018:
Vol. 362, Issue 6419, pp. 1161-1164
DOI: 10.1126/science.aar6731

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Genetic architecture of developmental disorders

The genetics of developmental disorders (DDs) is complex. Martin et al. wanted to determine the degree of recessive inheritance of DDs in protein-coding genes. They examined the exomes of more than 6000 families in populations with high and low proportions of consanguineous marriages. They found that 3.6% of DDs in individuals of European ancestry involved recessive coding disorders, less than a tenth of the levels previously estimated. Furthermore, among South Asians with high parental relatedness, rather than most of the disorders arising from inherited variants, fewer than half had a recessive coding diagnosis.

Science, this issue p. 1161