Fig. 2
![Fig. 2](http://media.springernature.com/full/springer-static/image/art%3A10.1186%2Fs12920-023-01438-6/MediaObjects/12920_2023_1438_Fig2_HTML.png)
Pedigree of Joubert syndrome patient and Sanger chromatograms. a Pedigree of the Joubert syndrome patient. b Sanger sequencing of KIAA0586 variant c.3303G > A. The black arrow indicates the position of variant. c Gel image for long PCR. Two fragments were obtained (2,747 bp and 1,367 bp) from the patient (II 2) and the father (I 1). d Sanger sequencing of KIAA0586 genomic deletion g.58,926,242–58,927,621del. Red arrow indicates the position of the break locus, and green arrow indicates the position of the connection locus