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Orphanet Journal of Rare Diseases

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Open Access 01-12-2016 | Research

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

Authors: Haiming Yuan, Linhuan Huang, Xizi Hu, Qian Li, Xiaofang Sun, Yingjun Xie, Shu Kong, Xiaoman Wang

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

Abstract

Background

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.

Result

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.

Conclusions

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.

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Title: FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset
Authors: Haiming Yuan
Linhuan Huang
Xizi Hu
Qian Li
Xiaofang Sun
Yingjun Xie
Shu Kong
Xiaoman Wang
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-016-0465-4

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset

Abstract

Background

Result

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Result

Conclusions

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