title: Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.
abstract: Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is an inherited autosomal-dominant limb malformation characterized by SD of finger 3 or 4 or toe 4 or 5, usually with digit duplication. Previous studies have demonstrated that homeobox protein D13 (HOXD13) is responsible for this Mendelian disorder. In this paper, we report on a family with SPD - 7 members show typical SPD malformations. We used PCR and Sanger sequencing of DNA from peripheral blood samples and found an 8-Ala expansion in exon 1 of HOXD13 by mutation detection; this variant was absent in unaffected members and in 50 unaffected non-related subjects. This study further confirmed the correlation between SPD and alanine expansion in HOXD13.
authors.affiliation: Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Medicine, Jinan 250012, PR China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Xin
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Jiangxia
authors.initials: J
authors.lastname: Li
authors.forename: Rongfang
authors.initials: R
authors.lastname: Qiu
authors.forename: Chenhong
authors.initials: C
authors.lastname: Guo
authors.forename: Yaoqin
authors.initials: Y
authors.lastname: Gong
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005801:Genes, Homeobox / Q000235:genetics; D056726:Genetic Association Studies; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000409:Alanine