title: A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.
abstract: Brachydactyly type A1 (BDA1) is caused by mutations in the Indian hedgehog gene, IHH, on chromosome 2q35-36. In this study, a large five-generation Chinese family with BDA1 was identified and characterized. All affected family members demonstrated significant homogeneous phenotype and some unique clinical features different from those associated with the reported BDA1 mutations in IHH. Linkage analysis showed that the BDA1 gene in the family was linked to marker D2S126 close to IHH with a LOD score of 4.74 at a recombination fraction of 0. DNA sequence analysis revealed a heterozygous C to T transition at nucleotide 461 of IHH, resulting in a novel T154I substitution. The T154I mutation co-segregated with all affected individuals in the family, and was not present in normal family members or 200 normal controls. These results expand the spectrum of clinical phenotype associated with IHH mutations.
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, People's Republic of China.
authors.forename: Mugen
authors.initials: M
authors.lastname: Liu
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, People's Republic of China.
authors.forename: Xu
authors.initials: X
authors.lastname: Wang
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, People's Republic of China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Cai
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, People's Republic of China.
authors.forename: Zhaohui
authors.initials: Z
authors.lastname: Tang
authors.affiliation: Liangfeng Middle School, Yuqing, Guizhou, 564405, People's Republic of China.
authors.forename: Kangsheng
authors.initials: K
authors.lastname: Cao
authors.affiliation: Institute of Radiology, the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022, People's Republic of China.
authors.forename: Bo
authors.initials: B
authors.lastname: Liang
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, People's Republic of China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Ren
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, People's Republic of China.
authors.forename: Jing Yu
authors.initials: JY
authors.lastname: Liu
authors.affiliation: Center for Human Genome Research and College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, People's Republic of China. wangq2@ccf.org.|Department of Molecular Cardiology, Lerner Research Institute, and Center for Cardiovascular Genetics, The Cleveland Clinic Foundation, Cleveland, OH, 44195, USA. wangq2@ccf.org.
authors.forename: Qing K
authors.initials: QK
authors.lastname: Wang
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D002681:China; D002874:Chromosome Mapping; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D053823:Hedgehog Proteins; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
chemical_list: D053823:Hedgehog Proteins; C509246:IHH protein, human; D036341:Intercellular Signaling Peptides and Proteins