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Related Experiment Video

Updated: Dec 25, 2025

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
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A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.

Amira Nabil1, Sahar El Shafei1, Nihal M El Shakankiri2

  • 1Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.

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|March 24, 2020
PubMed
Summary

Auriculocondylar syndrome (ARCND) is a rare craniofacial condition affecting the first and second branchial arches. Genetic variants in PLCB4, GNAI3, and EDN1 genes are linked to this syndrome, which presents with variable symptoms.

Keywords:
ARCNDFamilialMandibular to maxillary transformationPLCB4Variability

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Area of Science:

  • Genetics
  • Craniofacial Biology
  • Developmental Biology

Background:

  • Auriculocondylar syndrome (ARCND), also known as question-mark ear syndrome or dysgnathia complex, is a rare craniofacial malformation affecting the first and second branchial arches.
  • It is characterized by a distinctive question-mark ear (QME) malformation and variable mandibular anomalies, with a prevalence of less than 1 in 1,000,000.
  • Genetic variants in PLCB4, GNAI3, and EDN1 genes account for over 90% of tested ARCND cases.

Observation:

  • Whole exome sequencing was performed on a multigenerational Egyptian family exhibiting high intrafamilial variability of ARCND.
  • A known heterozygous missense variant in the PLCB4 gene (NM_000933.3:c.1862G>A:p.(Arg621His)) was identified in the affected kindred.
  • This study adds to the molecularly characterized ARCND patient cohort, bringing the total to 29.

Findings:

  • The identified PLCB4 variant in the Egyptian kindred confirms its role in Auriculocondylar syndrome.
  • The report highlights significant intrafamilial clinical variability in ARCND presentation, even within the same family.
  • Molecular characterization of this family expands the understanding of genetic underpinnings and phenotypic spectrum of ARCND.

Implications:

  • This research contributes to the genetic landscape of rare craniofacial disorders, specifically ARCND.
  • Understanding the genetic basis and variable expressivity of ARCND is crucial for accurate diagnosis and genetic counseling.
  • Further investigation into PLCB4 and other associated genes may reveal novel therapeutic targets for craniofacial malformations.