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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

Fig. 2

a- Autozygosity image, showing the common homozygous interval on 7p14.3 that harbors the known BBS9 gene and the defect was detected in its exon 4. b- Sequence chromatogram of BBS9 exon 4 is showing a homozygous deletion of cytosine in an affected individual (IV-4), heterozygous mutation in a carrier (III-2) and wild-type sequence in an normal individual (IV-6). c- The protein truncating mutation is depicting a loss of complete PTHB1 C-terminus domain along with some part of N-terminus, leaving behind a 122 amino acid truncated protein

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