biostudies-literatureWolf ZTNIDCR NIH HHSNLM NIH HHSe1005059https://www.ebi.ac.uk/biostudies/studies/S-EPMC4370697biostudies-literatureUnknown11(3)Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases anPLoS geneticsGenome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.PMC4370697R01 DE022532R01-DE022532T15 LM007059U01 DE020057R01 DE016148R01-DE016148T15-LM007059Wolf ZTLeslie EJBrand HACox TCMurray JCFeingold EArzi BSafra NWade CMWillet CEDeleyiannis FWMcHenry TShaffer JRSliskovic SKarmi NSanchez CWang XNarayan NMarazita MLBannasch DLfalseGenome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases an2015-01-01T00:00:00Z2015 Mar2026-05-04T02:09:27.346Z2025-05-18T11:35:09.493ZS-EPMC43706972579884510.1371/journal.pgen.1005059