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

ABSTRACT:

Background

Ciliopathies are an extensive group of autosomal recessive or X-linked 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. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene.

Methods

Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses. Moreover, exome sequencing was performed in one fetus with tectocerebellar dysraphia with occipital encephalocele (TCDOE), molar tooth sign and additional skeletal abnormal

SUBMITTER: Roosing S 

PROVIDER: S-EPMC5013089 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature