This website provides information on patients with mutations in the CEP120 gene, including clinical data, molecular data, management and research options.

Biallelic mutations in the CEP120 gene are known to be causative of Joubert syndrome (JS), Jeune asphyxiating thoracic dystrophy (JATD), and other complex ciliopathy phenotypes. Ciliopathies comprise a large group of clinically and genetically heterogeneous disorders due do structural or functional anomalies of the primary cilia. These are nearly ubiquitous subcellular organelles playing many essential roles in several adult tissues and during embryonic development. Among ciliopathies, subgroups can be identified based on the primary organ involvement (e.g. neurodevelopmental ciliopathies, retinal ciliopathies, renal ciliopathies, skeletal ciliopathies etc.). Yet, there is wide clinical and genetic overlap among these subgroups and variants in the same gene may be associated with a variety of ciliopathy phenotypes, such as it is the case of CEP120.

JS is a neurodevelopmental ciliopathy characterized by a distinctive mid-hindbrain malformation known as the “molar tooth sign” (MTS). JS typically presenting in infancy with developmental delay, hypotonia, abnormal ocular movements and later ataxia. JATD is a skeletal ciliopathy presenting with a long and narrow thorax, short stature, short limbs and polydactyly, and cystic renal disease. Skeletal findings may include cone-shaped epiphyses of hands and feet, irregular metaphyses, shortened ilium, and trident-shaped acetabulum. It is often lethal in infancy due to respiratory insufficiency. Two CEP120-mutated fetuses have recently been reported with overlapping features of distinct ciliopathies, including tectocerebellar dysraphia with occipital encephalocele, Meckel syndrome, JATD and oral-facial-digital syndrome. The only recurrent variant (p.Ala199Pro) seems to be consistently associated to a skeletal phenotype; besides this, no other definite correlations have been reported between mutation types and ciliopathy phenotypes.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with ciliopathies due to mutations in the CEP120 gene.

Enza Maria Valente, MD, PhD, Department of Molecular Medicine, University of Pavia, Pavia, Italy, enzamaria.valente@unipv.it

Susanne Roosing, PhD, Radboudumc, Nijmegen, The Netherlands, Susanne.Roosing@radboudumc.nl

Valentina Serpieri, BSc, Department of Molecular Medicine, University of Pavia, Pavia, Italy, valentina.serpieri01@universitadipavia.it

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