title: [Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported].
abstract: Metatropic dysplasia is a skeletal disorder with clinical heterogeneity, characterized by craniofacial dysmorphy including frontal bossing and midface hypoplasia, short trunk,progressive kyphoscoliosis and shortened limbs. The TRPV4 gene is located on 12q24.11, coding a cation channel with nonselective permeability to calcium; it is expressed and involved in many physiological processes through responses to different stimuli. Over 50 mutations in TRPV4 have been described. We present a seven months old girl with heterozygous mutation c.1811_1812delinsAT; p.I604N in intron 11 not previously reported in the TRPV4 gene and with clinical findings compatible with metatropic dysplasia.
authors.affiliation: Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes.
authors.forename: Francisco
authors.initials: F
authors.lastname: Cammarata-Scalisi
authors.affiliation: Centre for Pediatrics and Adolescent Medicine, University of Freiburg.
authors.forename: Uta
authors.initials: U
authors.lastname: Matysiak-Scholze
authors.affiliation: Centre for Pediatrics and Adolescent Medicine, University of Freiburg.
authors.forename: Jessica
authors.initials: J
authors.lastname: Heinze
authors.affiliation: Laboratorio de Investigación en Cirugía Ortopédica y Traumatología, Universidad de los Andes.
authors.forename: Albaro
authors.initials: A
authors.lastname: Barrera
authors.affiliation: Servicio de Neuropediatría, Departamento de Puericultura y Pediatría, Universidad de los Andes.
authors.forename: María Angelina
authors.initials: MA
authors.lastname: Lacruz-Rengel
authors.affiliation: Instituto de Investigaciones Genéticas, Universidad del Zulia.
authors.forename: Ana
authors.initials: A
authors.lastname: Bracho
authors.affiliation: Escuela de Medicina, Universidad de Los Andes.
authors.forename: Yudith
authors.initials: Y
authors.lastname: Guerrero
mesh_terms: D004392:Dwarfism / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010641:Phenotype; D050916:TRPV Cation Channels / Q000235:genetics*
chemical_list: D050916:TRPV Cation Channels; C416986:TRPV4 protein, human