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Table 1 Sequence variants identified in the BBS patients who tested positive to the molecular analysis

From: Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

Patient ID Genotype
P.1a c.664G>C/c.664G>C (p.G222R) N/N N/N
P.2a c.664G>C/c.664G>C (p.G222R) na na
P.3a,b c.1169T>G/c.1169T>G (p.M390R) na na
P.4a,b c.1169T>G / c.1169T>G (p.M390R) na na
P.5a c.1169T>G / c.1169T>G (p.M390R) na na
P.6 c.1169T>G/c.1642delC (p.M390R/p.L548Wfs*31) na na
P.7 c.592-59G>A/N N/N N/N
P.8 c.1702G>A/N (p.V568M) c.84delC/c.1059dupT (p.P29Rfs*50/p.N354X) N/N
P.9 N/N c.225T>G/c.225T>G (p.V75G) N/N
P.10 N/N c.2144G>A/N (p.R715Q) N/N
P.11 N/N c.986T>C/N (p. M329T) N/N
P.12 N/N c.535-79_90del/N c.2137_2140del/c.962A>G (p.K713Ffs*16/p.Y321C)
P.13 na na c.235dupA/c.271dupT (T79Nfs*17/p.C91LfsX5)
P.14a na na c.509T>C/c.509T>C (p.L170S)
P.15a N/N N/N c.641T>A/c.641T>A (p.V214E)
  1. In bold, variants not previously linked to the BBS phenotype. For cDNA numbering, +1 corresponds to the A of the ATG translation initiation codon, which is codon 1. Reference gene sequences were BBS1 (NG_009093.1, NM_024649.4), BBS2 (NG_009312.1, NM_031885.3), BBS10 (NG_016357.1, NM_024685.3)
  2. N gene-specific normal allele, n.a. not analyzed
  3. aWith consanguineous parents
  4. bPatients 3 and 4 are siblings