Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

doi:10.1016/j.ajhg.2013.11.010

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Article

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

American journal of human genetics - 2 Jan 2014

Shaheen Ranad, Shamseldin Hanan E, Loucks Catrina M, Seidahmed Mohammed Zain, Ansari Shinu, Ibrahim Khalil Mohamed, Al-Yacoub Nadya, Davis Erica E, Mola Natalie A, Szymanska Katarzyna, Herridge Warren, Chudley Albert E, Chodirker Bernard N, Schwartzentruber Jeremy, Majewski Jacek, Katsanis Nicholas, Poizat Coralie, Johnson Colin A, Parboosingh Jillian, Boycott Kym M, Innes A Micheil, Alkuraya Fowzan S

Abstract excerpt

Ciliopathies are characterized by a pattern of multisystem involvement that is consistent with the developmental role of the primary cilium. Within this biological module, mutations in genes that encode components of the cilium and its anchoring structure, the basal body, are the major contributors to both disease causality and modification. However, despite rapid advances in this field, the majority of the genes...

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Identifiers

PMID: 24360803
DOI: 10.1016/j.ajhg.2013.11.010
PMCID: PMC3882732

Genes

CSPP1
SHH

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