Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Ciliopathies are an extensive group of disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. Our study resulted in the identification of six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy. The CEP120-associated phenotype ranges from mild classical JS in four patients, to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies. Our findings broaden the spectrum of phenotypes caused by CEP120 mutations, that account for nearly 1% of JS patients 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. (By Dr. Susanne Roosing, http://jmg.bmj.com/content/early/2016/05/06/jmedgenet-2016-103832 )

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