title: A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
abstract: Brachydactyly type C (BDC), a well-recognized autosomal dominant hand malformation, displays brachymesophalangy of the second, third, and fifth fingers, a short first metacarpal, hyperphalangy, and ulnar deviation of the index finger. An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. BDC and ASPED result from mutations in the CDMP1 gene. We report here a Mexican patient with BDC and clinical features of ASPED who carries a novel mutation in CDMP1, confirming that BDC and ASPED are part of the CDMP1 mutational spectrum. Based on the large number of clinical features in common, we suggest that both anomalies are part of the same clinical spectrum. Supported by an extensive review of the literature, a possible genotype-phenotype correlation in the mutational spectrum of this gene is proposed.
authors: División de Genética, CIBO, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.
authors: Bianca Ethel
authors: BE
authors: Gutiérrez-Amavizca
authors: Aniel Jessica Leticia
authors: AJ
authors: Brambila-Tapia
authors: Clara Ibet
authors: CI
authors: Juárez-Vázquez
authors: Muriel
authors: M
authors: Holder-Espinasse
authors: Sylvie
authors: S
authors: Manouvrier-Hanu
authors: Fabienne
authors: F
authors: Escande
authors: Patricio
authors: P
authors: Barros-Núñez
mesh_terms: D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D059327:Brachydactyly / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D004838:Epiphyses / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D055428:Growth Differentiation Factor 5 / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D011859:Radiography; D017384:Sequence Deletion
chemical_list: C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5