title: FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.
abstract: Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.
  
  
  
  A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. Using quantitative real-time PCR analysis, GRB10 was over-expressed, and, using enzyme-linked immunosorbent assays for IGF1 and IGF-binding protein-3 (IGFBP3), we found that IGF1 and IGFBP3 were low-expressed in this patient.
  
  
  
  We demonstrate that a combination of uncommon, rare and exceptional molecular defects related to the molecular bases of particular birth defects can be analyzed and diagnosed to potentially explain the observed variability in the combination of molecular defects.
authors.affiliation: Guangzhou KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, 510330, Guangdong, China.|KingMed School of Laboratory Medicine, Guangzhou Medical University, Guangzhou, 510330, Guangdong, China.
authors.forename: Haiming
authors.initials: H
authors.lastname: Yuan
authors.affiliation: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat Sen University, Guangzhou, Guangdong, 510080, China.
authors.forename: Linhuan
authors.initials: L
authors.lastname: Huang
authors.affiliation: Fairmont Preparatory Academy, Anaheim, CA, 92801, USA.
authors.forename: Xizi
authors.initials: X
authors.lastname: Hu
authors.affiliation: Affymetrix Biotech Shanghai Ltd., Shanghai, 200020, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Rd., Guangzhou, 510150, People's Republic of China.
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Sun
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Rd., Guangzhou, 510150, People's Republic of China. fairyfareyj@sina.com.
authors.forename: Yingjun
authors.identifier: 0000-0002-4960-2112
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Rd., Guangzhou, 510150, People's Republic of China.
authors.forename: Shu
authors.initials: S
authors.lastname: Kong
authors.affiliation: Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University, 63 Duobao Rd., Guangzhou, 510150, People's Republic of China.
authors.forename: Xiaoman
authors.initials: X
authors.lastname: Wang
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D002675:Child, Preschool; D051383:GRB10 Adaptor Protein / Q000235:genetics*; D020440:Gene Duplication / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D056730:Silver-Russell Syndrome / Q000235:genetics
chemical_list: C096358:GRB10 protein, human; D051383:GRB10 Adaptor Protein; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: Achondroplasia; Duplication; GRB10; Over-expression; Silver-Russell syndrome