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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Fig. 3

IFT140 variants segregated with disease in both families with Sensenbrenner syndrome. Patient 1 has a heterozygous c.326 T > C (p.(Leu109Pro)) variant, which was inherited from the mother (a) and patient 2 has a heterozygous c.1565G > A (p.(Gly522Glu)) change, which was inherited from the father (b). Duplex-PCR revealed the presence of a tandem duplication p.Tyr1152_Thr1394dup in patients 1 and 2. This variant was inherited from the father in patient 1 and from the mother in patient 2, respectively (c). Sanger sequencing traces showing the breakpoints of the tandem duplication p.Tyr1152_Thr1394dup in both CED patients (d)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172