Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

doi:10.1016/j.ajhg.2013.11.019

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Article

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

American journal of human genetics - 2 Jan 2014

Tuz Karina, Bachmann-Gagescu Ruxandra, O'Day Diana R, Hua Kiet, Isabella Christine R, Phelps Ian G, Stolarski Allan E, O'Roak Brian J, Dempsey Jennifer C, Lourenco Charles, Alswaid Abdulrahman, Bönnemann Carsten G, Medne Livija, Nampoothiri Sheela, Stark Zornitza, Leventer Richard J, Topçu Meral, Cansu Ali, Jagadeesh Sujatha, Done Stephen, Ishak Gisele E, Glass Ian A, Shendure Jay, Neuhauss Stephan C F, Haldeman-Englert Chad R, Doherty Dan, Ferland Russell J

Abstract excerpt

Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 (centrosome and spindle pole associated protein 1) mutations in 19 JBTS-affected individuals, four of whom also have features of JATD. CSPP1 mutations explain ∼5% of JBTS in our cohort, and...

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PMID: 24360808
DOI: 10.1016/j.ajhg.2013.11.019
PMCID: PMC3882733

Genes

CSPP1

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