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Sutures of the Skull01:22

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The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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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...
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Fibrous joints are a type of joint where the bones are connected by fibrous connective tissue. These joints provide stability and minimal to no movement between the articulating bones. There are three types of fibrous joints.
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Related Experiment Video

Updated: Feb 26, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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FGF9 mutation causes craniosynostosis along with multiple synostoses.

Maria Rodriguez-Zabala1, Miriam Aza-Carmona1,2,3, Carlos I Rivera-Pedroza1,3

  • 1Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.

Human Mutation
|July 22, 2017
PubMed
Summary
This summary is machine-generated.

Mutations in the FGF9 gene cause craniosynostosis, a condition affecting skull development. This study identifies a novel FGF9 mutation, confirming its role in both craniosynostosis and multiple synostoses in humans.

Keywords:
FGF9bonecraniosynostosisskeletal dysplasiasuture

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Craniosynostosis is often linked to mutations in fibroblast growth factor receptors (FGFRs).
  • Fibroblast growth factor (FGF)-mediated signaling is crucial for skeletal development.
  • The molecular basis for craniosynostosis in some families remains unidentified.

Purpose of the Study:

  • To identify the genetic cause of craniosynostosis in a family with no previously detected mutations.
  • To investigate the role of FGF9 in human skeletal development and associated disorders.

Main Methods:

  • Next-generation sequencing to identify genetic mutations.
  • Structural modeling and functional studies to assess mutation pathogenicity.
  • Comparison with existing literature and mouse models.

Main Results:

  • A novel missense mutation in the FGF9 gene was identified in the affected family.
  • Functional studies confirmed the mutation impairs FGF9 homodimerization and FGFR3 binding.
  • The identified FGF9 mutation is pathogenic and causes craniosynostosis in humans.

Conclusions:

  • Mutations in FGF9 are a cause of craniosynostosis in humans.
  • FGF9 mutations are confirmed to cause multiple synostoses.
  • This study expands the known genetic causes of craniosynostosis and highlights FGF9's critical role in skeletal development.