Related Experiment Video

Updated: Jul 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

FGFR mutations and plagiocephaly

Valairat Dhamcharee1, Richard G Boles

  • 1Division of Neonatal Medicine, Children's Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA. vdhamcharee@chla.usc.edu

The Journal of Craniofacial Surgery
|January 25, 2008
PubMed

Insights

Fibroblast growth factor receptor (FGFR) gene mutations are linked to craniosynostosis. This study found no FGFR gene variations in children with nonsynostotic plagiocephaly, suggesting these mutations do not cause this condition.

Area of Science:

  • Genetics
  • Developmental Biology
  • Orthopedics

Background:

  • Fibroblast growth factor receptors (FGFRs) play a crucial role in bone development.
  • Mutations in specific exons of FGFR1-3 are associated with craniosynostosis and some forms of plagiocephaly.

Purpose of the Study:

  • To investigate the association between sequence variations in FGFR "hot spot" exons and nonsynostotic plagiocephaly.
  • To test the hypothesis that FGFR mutations predispose individuals to developmental bone deformation in this condition.

Main Methods:

  • Assayed 160 children diagnosed with nonsynostotic plagiocephaly.
  • Utilized temporal temperature gradient gel electrophoresis to screen for sequence variations in FGFR "hot spot" exons.

Main Results:

  • No sequence variations were detected in the targeted FGFR "hot spot" exons among the children studied.
  • This indicates that mutations in these specific FGFR exons are not associated with nonsynostotic plagiocephaly.

Conclusions:

  • The findings suggest that mutations in the "hot spot" exons of FGFR1-3 are not a cause of nonsynostotic plagiocephaly.
  • Further research may be needed to explore other FGFR exons or related genes for potential associations.

More Related Videos

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer11:46

Investigating Protein-protein Interactions in Live Cells Using Bioluminescence Resonance Energy Transfer

Published on: May 26, 2014

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Mutations01:39

Mutations

Overview
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life