Ramos Mejía Rosario, Aza-Carmona Miriam, Del Pino Mariana, Heath Karen E, Fano Virginia, Obregon Maria Gabriela
Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina.
Institute of Medical and Molecular Genetics (INGEMM), Madrid, Spain.
J Pediatr Genet. 2020 Mar;9(1):48-52. doi: 10.1055/s-0039-1695056. Epub 2019 Sep 2.
Hypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 ( ) 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.
软骨发育不全（HCH）是一种由成纤维细胞生长因子受体3（ ）基因突变引起的骨骼发育不良，其特征为身材比例失调的矮小。p.Asn540Lys（p.N540K）突变约占HCH病例的50%至70%，但也有新的FGFR3突变被描述。我们报告了一个在阿根廷一家大型公立儿童医院就诊的身材比例失调矮小且有轻度影像学表现的家庭。在FGFR3中鉴定出一个先前未描述的杂合错义变异，NM_000142.4:667C＞T；p.（Arg223Cys）。预测的表型与观察到的轻度体格和影像学特征密切相关。在这个病例中，身材比例失调的矮小引发了对骨骼发育不良的怀疑。
