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Related Concept Videos

Mutations in Microorganisms01:18

Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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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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Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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Mutations01:39

Mutations

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Related Experiment Video

Updated: Mar 31, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Lijia Huang1, Megan R Vanstone1, Taila Hartley1

  • 1The Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

Human Mutation
|October 29, 2015
PubMed
Summary

Mandibulofacial dysostosis with microcephaly (MFDM) is caused by EFTUD2 gene mutations. This review details 107 cases, highlighting microcephaly, craniofacial issues, and hearing loss as key features.

Keywords:
EFTUD2MFDMmandibulofacial dysostosismandibulofacial dysostosis Guion-Almeida typemandibulofacial dysostosis with microcephalymicrocephaly

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder.
  • It is characterized by microcephaly, craniofacial anomalies, and hearing loss.
  • The condition results from haploinsufficiency of the spliceosomal GTPase U5-116 kDa/EFTUD2.

Purpose of the Study:

  • To review the molecular basis of MFDM.
  • To report new mutations in the EFTUD2 gene.
  • To consolidate data from previously reported and new cases.

Main Methods:

  • Literature review of MFDM cases.
  • Genetic analysis of new individuals with MFDM.
  • Compilation of pathogenic EFTUD2 variants.

Main Results:

  • The study includes 107 individuals from 94 kindreds with MFDM.
  • 76 distinct mutations and 7 microdeletions in EFTUD2 were identified.
  • Stop-gain (38%) and splicing (43%) mutations are more common than missense substitutions (18%).
  • Clinical features include microcephaly (nearly universal), craniofacial malformations, and hearing loss; esophageal atresia occurs in ~27%.

Conclusions:

  • EFTUD2 mutations are the primary cause of MFDM.
  • The spectrum of clinical features is broad, with some anomalies like microcephaly showing age-dependent changes.
  • A comprehensive database of EFTUD2 mutations is available for research.