CSPP1 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: centrosome and spindle pole associated protein 1
  • Plays a role in cell cycle progression and spindle organisation
  • Required for ciliogenesis
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal recessive
Ocular features
Systemic featuresMain features:
  • Brain stem and cerebellar malformations (cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, deepened interpeduncular fossa)
  • Cerebellar ataxia
  • Hypotonia
  • Neonatal breathing abnormalities
  • Delayed psychomotor development
Additional features:
  • Nephronophthisis (cystic kidneys)
  • Sensorineural hearing loss
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit (characteristic “molar tooth sign”)
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

Jump to top


  1.  Akizu N, Silhavy JL, Rosti RO, et al. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 2014;94(1):80‐86
  2.  Patzke S, Hauge H, Sioud M, et al. Identification of a novel centrosome/microtubule-associated coiled-coil protein involved in cell-cycle progression and spindle organization. Oncogene. 2005;24(7):1159‐1173
  3.  Shaheen R, Shamseldin HE, Loucks CM, et al. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet. 2014;94(1):73‐79

Jump to top

Updated on November 30, 2020
Was this article helpful?