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. Author manuscript; available in PMC: 2014 Feb 4.
Published in final edited form as: J Med Genet. 2010 Nov 10;48(2):105–116. doi: 10.1136/jmg.2010.082552

Figure 2.

Figure 2

Sequence chromatograms of 28 different novel mutations identified in the genes NPHP4 (4), IQCB1 (1), CEP290 (8), RPGRIP1L (2), TMEM67 (7), AHI1 (1), and CC2D2A (5) in individuals with a NPHP-AC. Gene name, patient identifier, nucleotide change, and inferred amino acid alteration are given above sequence traces. Wild type sequence chromatograms are shown below mutated sequences. All mutations were absent from at least 96 healthy control individuals. Note, that no second mutation has been identified in patients A394, A2420, and F787 in whom we identified a heterozygous truncating mutation in the genes IQCB1 (p.R364X), CEP290 (p.K484fsX8), and AHI1 (p.R891X), respectively. All mutations were found in the heterozygous state with the exception of a homozygous CEP290 missense mutation (p.L972P) in patient F335.