You have full access to this open access article. We sequenced C5orf42 in JS probands and identified mutations in 28 8. A comparison of mutated vs. Other oral-facial e. As part of a ciliopathy research project, we sequenced C5orf42 in JS probands, and identified pathogenic mutations in 28 8. No mutations were detected in the remaining 14 Schematic representation of C5orf42 protein structure and distribution of all reported mutations.
The two predicted transmembrane domains TM, amino acids โ and โ and the two predicted coiled coil domains CCD, amino acids 2,โ2, and 2,โ2, are shown. Mutations found in patients with pure Joubert syndrome and with OFDVI are presented in the upper and lower parts of the figure, respectively.
Mutations identified in the present study are in bold. In brackets are the numbers of patients in whom each mutation has been identified. Asterisk indicates clinical data not available. To explain the striking discrepancy between our findings and those reported by Lopez et al. Preaxial and mesoaxial polydactyly, hypothalamic hamartomas and other congenital abnormalities were significantly more frequent in the mutated group, while tongue hamartomas or multiple lingual frenula occurred more commonly in non-mutated patients.
Other oral-facial features, postaxial polydactyly and other brain abnormalities were equally represented in both groups.
Twenty-seven C5orf42 mutated patients from 23 families in our study had pure JS with retinopathy in one , while clinical data were unavailable in three. Kidney or liver involvement was never noted, while polydactyly mainly preaxial was present in nearly half of mutated patients regardless of the phenotype. These findings delineate a specific C5orf42 -related phenotype, and suggest a major role for this gene in limb development.
