title: Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
abstract: Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family.
authors.affiliation: Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Wenjing
authors.initials: W
authors.lastname: Shen
authors.forename: Dong
authors.initials: D
authors.lastname: Han
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.forename: Hongshan
authors.initials: H
authors.lastname: Zhao
authors.forename: Hailan
authors.initials: H
authors.lastname: Feng
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000848:Anodontia / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002681:China; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D017880:Limb Deformities, Congenital / Q000235:genetics; D009154:Mutation; D017689:Polydactyly / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014071:Tooth Abnormalities / Q000235:genetics
chemical_list: C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins