Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome

Figure 2

Genetic analysis of the family. (a) The pedigree of the family. Individuals marked with a question mark (?) were not genotyped for the C5orf42 variants. (b) Sequencing chromatographs of C5orf42 gene revealed variants in the proband, the parents, and the sister. Variants were indicated by black arrows. (c) Sequence alignment of C5orf42 protein and its orthologs in different species. The amino acid in position 1286 is highlighted by a blue box.

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