Estudio clínico y molecular en una familia con displasia cleidocraneal

Translated title of the contribution: Clinical and molecular study in a family with cleidocranial dysplasia

Michele Callea, Fabiana Fattori, Enrico S. Bertini, Izzet Yavuz, Emanuele Bellacchio, Andrea Avendaño, Dianora Araque, María A. Lacruz-Rengel, Gloria Da Silva, Francisco Cammarata-Scalisi

Research output: Contribution to journalArticlepeer-review

Abstract

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G>A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype.

Translated title of the contributionClinical and molecular study in a family with cleidocranial dysplasia
Original languageSpanish
Pages (from-to)e440-e444
JournalArchivos Argentinos de Pediatria
Volume115
Issue number6
DOIs
Publication statusPublished - Jan 1 2017

Keywords

  • C.674G>A
  • Cleidocranial dysplasia
  • p.R225Q
  • RUNX2

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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