title: Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.
abstract: Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. It is caused by biallelic mutations in the EVC or EVC2 gene. Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. Identification of a novel genotype in EvC will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling.
authors.affiliation: Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affliated the Sixth People's Hospital, 600 Yi-Shan Rd., Shanghai 200233, PR China.
authors.forename: Zeng
authors.initials: Z
authors.lastname: Zhang
authors.forename: Kun
authors.initials: K
authors.lastname: Bao
authors.forename: Jin-Wei
authors.initials: JW
authors.lastname: He
authors.forename: Wen-Zhen
authors.initials: WZ
authors.lastname: Fu
authors.forename: Chang-Qing
authors.initials: CQ
authors.lastname: Zhang
authors.forename: Zhen-Lin
authors.initials: ZL
authors.lastname: Zhang
mesh_terms: D002681:China; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
chemical_list: C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins