Fig. 3: Identification of the disease-causing variant. | npj Genomic Medicine

Fig. 3: Identification of the disease-causing variant.

From: A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant

Fig. 3

A Pedigrees of studied consanguineous Bedouin kindreds. Affected individuals are marked in black. Subjects available for this study are marked with asterisks. B LOD score analysis plot of chromosome 12 using SUPERLINK-Online. C Homozygosity Mapper plot showing single homozygosity locus shared by affected individuals, marked in red (black arrow). D Chromatograms obtained by Sanger sequencing of unaffected wildtype, unaffected carrier and affected subjects demonstrating the CEP83:c.-278dupG variant (black rectangle).

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