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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

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Published on: September 20, 2016

A novel mutation in FGFR2.

Jacqueline A C Goos¹, Ans M W van den Ouweland, Sigrid M A Swagemakers

¹Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center, Rotterdam, the Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

American Journal of Medical Genetics. Part A

|November 27, 2014

Summary

Researchers identified a new mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, offering insights into syndromic craniosynostosis causes. This discovery advances understanding of genetic factors contributing to this congenital anomaly.

Keywords:

FGFR2 case reports craniosynostosis sequence analysis

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Area of Science:

Genetics and Molecular Biology
Developmental Biology
Medical Genetics

Background:

Craniosynostosis is a congenital condition involving premature fusion of skull sutures, occurring in isolation or as part of genetic syndromes.
Current genetic knowledge explains only 24% of syndromic craniosynostosis cases, indicating a need for identifying additional causative genes and mutations.

Observation:

A comprehensive sequence analysis of all coding exons and exon/intron boundaries of the fibroblast growth factor receptor 2 (FGFR2) gene was conducted.
This analysis included 124 patients diagnosed with syndromic craniosynostosis.

Findings:

Identification of a novel point mutation in the FGFR2 gene: c.812G>T, resulting in the amino acid change p.(Gly271Val).
Identification of another mutation: c.1851G>C, resulting in the amino acid change p.(Leu617Phe).
These findings suggest FGFR2 as a significant gene involved in the etiology of syndromic craniosynostosis.

Implications:

The discovery of novel FGFR2 mutations expands the spectrum of known genetic causes for syndromic craniosynostosis.
This research contributes to a more comprehensive understanding of the genetic underpinnings of craniosynostosis, potentially aiding in diagnosis and genetic counseling.
Further investigation into these mutations may reveal new therapeutic targets or diagnostic markers for syndromic craniosynostosis.