KIF7 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Kinesin family member 7
  • Involved in ciliary function and signalling pathways
Clinical phenotype
(OMIM phenotype no.)
  • Acrocallosal syndrome (ACLS) (#200990)
Inheritance
  • Autosomal recessive
Ocular features
  • Coloboma
  • Retinal dystrophy
Visual function
  • Progressive vision loss
Systemic features
  • Polydactyly
  • Intellectual disability
  • Craniofacial anomalies
  • Spastic paraplegia
Key investigations
  • Genetic testing: identification of KIF7 mutations
Management
  • Multidisciplinary approach including neurology, ophthalmology, and orthopedics
Therapies under research
  • None at present

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References

  1.  Ruiz-Matos SJ, Ruiz-Justiz AJ, Izquierdo N, Ruiz S. Retinitis Pigmentosa Sine Pigmento in a Patient With a Heterozygous Mutation on the KIF7 Gene: A Case Report. Cureus. 2024 Jun 19;16(6).

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Updated on July 5, 2024
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