CSPP1 gene

Overview

Gene (OMIM No.)	CSPP1 (#611654)
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.)	Joubert syndrome 21 (#615636)
Inheritance	Autosomal recessive
Ocular features	Ptosis Oculomotor apraxia Nystagmus Microphthalmia, anophthalmia, coloboma (MAC) spectrum (one family) Retinal dystrophy
Systemic features	Main 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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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
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
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

Updated on November 30, 2020

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