Haploinsufficiency of SF3B2 causes craniofacial microsomia.

We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10 −10 ), a component of the U2 small nuclear ribonucleoprotein complex, in probands.

also in 132,142 other papers

No gene had more than one rare, recessive genotype, and no other single gene approached significance in analyzing the burden of rare, damaging alleles in cases.

also in 8,237 other papers