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Related Concept Videos

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Pleiotropy

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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Related Experiment Video

Updated: Jun 25, 2026

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Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

Evan Burchfiel1, Xiaonan Zhao1,2, Nichole M Owen1,2

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Clinical Genetics
|June 23, 2026
PubMed
Summary

Loss of SEMA6A function in humans is linked to neurodevelopmental disorders, including intellectual disability and autism spectrum disorder. These findings suggest SEMA6A variants may increase the risk for these conditions and associated behavioral issues.

Keywords:
SEMA6ACNS anomaliesattention deficit disorderautism spectrum disorderdevelopmental delayneurodevelopmental disorder

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Area of Science:

  • Neurogenetics
  • Developmental Biology
  • Human Genetics

Background:

  • SEMA6A is a transmembrane protein crucial for axon guidance and cell migration.
  • Studies in Sema6a null mice reveal cerebral defects and altered cognitive and social behaviors.
  • Human phenotypes associated with SEMA6A loss-of-function variants remain largely undefined.

Purpose of the Study:

  • To investigate the clinical phenotypes in individuals with putatively damaging SEMA6A variants.
  • To determine the association between SEMA6A variants and neurodevelopmental outcomes.
  • To explore potential links between SEMA6A haploinsufficiency and behavioral and neurological abnormalities.

Main Methods:

  • Clinical evaluation of 11 individuals with heterozygous SEMA6A variants.
  • Assessment of neurodevelopmental status, including developmental delay, intellectual disability, and autism spectrum disorder.
  • Analysis of behavioral phenotypes, attention disorders, and brain MRI findings.

Main Results:

  • All 11 individuals (100%) exhibited neurodevelopmental phenotypes.
  • Commonly observed phenotypes included developmental delay, intellectual disability, and autism spectrum disorder.
  • Abnormal behaviors, attention disorders, and brain anomalies were frequently reported in affected individuals.

Conclusions:

  • Loss of SEMA6A function is associated with an increased risk of neurodevelopmental phenotypes, abnormal behaviors, and attention disorders.
  • SEMA6A variants may contribute to brain anomalies.
  • Further research is required to clarify the inheritance pattern and diagnostic classification of SEMA6A-related disorders.