Open AccessClinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation
Author(s) -
Rosario Ramos Mejía,
Miriam AzaCarmona,
Mariana del Pino,
Karen E. Heath,
Virginia Fano,
María Gabriela Obregón
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1695056
Subject(s) - short stature , missense mutation , dysplasia , fibroblast growth factor receptor 3 , dwarfism , mutation , achondroplasia , medicine , phenotype , osteochondrodysplasia , fibroblast growth factor , endocrinology , genetics , pediatrics , gene , pathology , receptor , biology
Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HCH, but novel FGFR3 mutations are described. We present a family with disproportionately short stature and mild radiologic findings seen in a major public pediatric hospital in Argentina. A previously undescribed heterozygous missense variant in FGFR3, NM_000142.4:667C > T; p.(Arg223Cys) was identified. The predicted phenotype correlates well with the mild auxologic and radiologic characteristics observed. In this case, disproportionately short stature raised the suspicion of skeletal dysplasia.