Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Susanne RoosingMarta RomaniMala IsrieRasim Ozgur RostiAlessia MicalizziDamir MusaevTommaso MazzaLihadh Al-GazaliUmut AltunogluEugen BoltshauserStefano D'ArrigoBart De KeersmaeckerHülya KayseriliSarah BrandenbergerIchraf KraouaPaul R MarkTrudy McKannaJoachim Van KeirsbilckPhilippe MoermanAndrea PorettiRatna PuriHilde Van EschJoseph G GleesonEnza Maria ValentePublished in: Journal of medical genetics (2016)
Our findings broaden the spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes. The lack of clear genotype-phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies.
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