Fig. 2

a Familial pedigree with Joubert syndrome shows a novel compound heterozygous TMEM67 variant in the case-index and the fetus while the parents were heterozygous. b, c Sang sequencing showing the proband and his father were heterozygous for TMEM67 c.725A > G p.Asn242Ser variant. Moreover, the proband and his mother were heterozygous for a novel TMEM67 splice-site variant c.313-3 T > G p.Leu105Valfs*16. d Reverse transcriptase PCR showing alternative splicing effect with the deletion of 4 bps in exon 03 in the mRNA resulting in an aberrant transcript with premature codon stop. The last nucleotide in exon 2 is yellow highlighted