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A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

K M Girisha1, A Shukla1, D Trujillano2

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

Clinical Genetics
|February 17, 2016
PubMed

Insights

Intraflagellar transport (IFT) defects cause ciliopathies. A novel IFT52 gene variant was identified in a child with Sensenbrenner syndrome, linking IFT52 to human disease for the first time.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Primary cilia are crucial for cellular function, and defects in intraflagellar transport (IFT) complexes lead to ciliopathies.
  • Ciliopathies manifest with diverse symptoms affecting skeletal, neurological, ocular, ectodermal, and renal systems.

Observation:

  • A child presented with a complex phenotype including short stature, skeletal dysplasia, polydactyly, and pigmentary retinopathy.
  • The child's symptoms shared significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome).

Findings:

  • Whole-exome sequencing identified a homozygous nonsense variant (p.R142*) in the IFT52 gene.
  • This variant in IFT52, encoding an IFT-B core complex protein, is the likely cause of the observed condition.

Implications:

  • This study reports the first human disease associated with mutations in IFT52.
  • Understanding IFT52's role expands knowledge of ciliopathies and their genetic underpinnings.

Keywords:
chondrodysplasiaciliopathyexome sequencingintraflagellar transportsensenbrenner syndromeshort rib thoracic dysplasia

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