Fig. 1 | European Journal of Human Genetics

Fig. 1

From: A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

Fig. 1

Pedigrees, pictures, and CT scan of the families studied. a Family A with three affected individuals. Whole-exome sequencing of the trio was performed, indicated by red arrows. b Family B with two affected individuals. The asterisk indicates individuals who could be analyzed; squares indicate males and circles females. Affected individuals are marked by filled symbols, and symbols crossed through indicate deceased individuals. c Conservation of the ARL13B across different species in the region adjacent to the Gly75 variant. The sequence alignment was obtained using the Clustal Omega protein sequence alignment (http://www.ebi.ac.uk/tools/msa/clustalo/). The sequence alignment spans amino acid positions 70–87 of ARL13B NCBI, Protein Accession number AAI04037.1. d CT scans are available from patients IV:2 and IV:6 of Family A. From left to right, the arrows in the first column (1) indicate a vermal cleft as a sign of a vermis defect. In (2), the arrows indicate the umbrella-shaped fourth ventricle that is typical in Joubert syndrome (JS). In (3), the molar tooth sign is encircled (anterior deep interpeduncular fossa and splayed elongated superior cerebellar peduncles). The asterisk in (4) marks an enlarged supravermian cistern (only visible in the female)

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