title: Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly.
abstract: Synpolydactyly (SPD) is an autosomal dominant limb malformation with a distinctive combination of syndactyly and polydactyly. SPD is clinically heterogeneous and could be genetically classified into three types. The clinical phenotype of SPD is complicated by its variable expressivity. In the present study, whole exome sequencing (WES) was used to identify the affected gene(s) in a Chinese family with atypical SPD phenotype. Our results showed that a novel heterogenous nonsense mutation (c.556C > T, p.R186X) in HOXD13 was associated with this SPD case. Due to variable expressivity, the diagnosis of a clinical heterogenous disease such as SPD is usually difficult. Our results also suggested that WES is an efficient tool to assist with these diagnoses.
authors.affiliation: Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Wang
authors.affiliation: Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Niu
authors.initials: N
authors.lastname: Li
authors.affiliation: Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Geng
authors.affiliation: Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Zhigang
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Qihua
authors.initials: Q
authors.lastname: Fu
authors.affiliation: Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.affiliation: Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Yunlan
authors.initials: Y
authors.lastname: Xu
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013576:Syndactyly / Q000175:diagnosis* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors
keywords: HOXD13; synpolydactyly; whole exome sequencing