Open AccessEstudio clínico y molecular en una familia con displasia cleidocraneal
Author(s) -
Michele Callea,
Fabiana Fattori,
Enrico Bertini,
İzzet Yavuz,
Emanuele Bellacchio,
Ahmed Avendano,
Dianora Araque,
María Angelina Lacruz-Rengel,
Gloria Da Silva,
Francisco CammarataScalisi
Publication year - 2017
Publication title -
archivos argentinos de pediatría
Language(s) - Spanish
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2017.e440
Subject(s) - cleidocranial dysplasia , medicine , hypoplasia , missense mutation , genetics , biology , anatomy , phenotype , gene , supernumerary
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 Estudio clínico y molecular en una familia con displasia cleidocraneal Clinical and molecular study in a family with cleidocranial dysplasia 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.