title: A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2-q12.
abstract: Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal dominant accessory auricular anomaly (ADAAA), we investigated a Chinese family with 11 affected individuals. We performed linkage analysis with microsatellite markers spanning the whole human-genome in the family. The inheritance pattern of the ADAAA family was autosomal dominant with complete penetrance. Two-point linkage analysis revealed significant maximum LOD scores of 4.20(D14S990 and D14S264, sita = 0) in the family. Haplotype construction and multipoint linkage analysis also confirmed the locus and defined the isolated ADAAA locus to a 9.84 cM interval between the markers D14S283 and D14S297. Our study assigned an isolated ADAAA locus to 14q11.2-q12. This is the first ADAAA locus reported to date.
authors.affiliation: Tianjin Eye Institute, Tianjin Eye Hospital, Tianjin Medical University, 300020 Tianjin, China.
authors.forename: Yongjia
authors.initials: Y
authors.lastname: Yang
authors.forename: Jihong
authors.initials: J
authors.lastname: Guo
authors.forename: Zheng
authors.initials: Z
authors.lastname: Liu
authors.forename: Siyuan
authors.initials: S
authors.lastname: Tang
authors.forename: Ningdong
authors.initials: N
authors.lastname: Li
authors.forename: Mengrong
authors.initials: M
authors.lastname: Yang
authors.forename: Qiong
authors.initials: Q
authors.lastname: Pang
authors.forename: Feiyue
authors.initials: F
authors.lastname: Fan
authors.forename: Juan
authors.initials: J
authors.lastname: Bu
authors.forename: Song Tao
authors.initials: ST
authors.lastname: Yuan
authors.forename: Xiangjun
authors.initials: X
authors.lastname: Xiao
authors.forename: Yuxiang
authors.initials: Y
authors.lastname: Chen
authors.forename: Kanxing
authors.initials: K
authors.lastname: Zhao
mesh_terms: D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree