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Table 2 Comparative genotype-phenotype correlation analysis in BBS patients

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 Phenotype Genotype
  Ocular Renal Audio-vestibular Gene Mutation
  Eye vision R/L Fundus finding Macular alterations eGFR
<60 ml/min/1.73 m2
Max uOsm <750 mOsm/kg Ultrasound abnormalities Hearing impairment Timpanogram type DPOAE L/R Vestibular test ABR alteration   
P.1 0.25/0.2 RP sp Yes No Yes Yes No AA +/− spontaneous NY No BBS1 c.664G>C/c.664G>C
P.2 0.3/0.2 RP sp No No No Yes mixed BB + /- positional NY only V wave BBS1 c.664G>C/c.664G>C
P.3 0.2/0.1 RP NP NP NP NP NP NP NP NP NP BBS1 c.1169T>G /c.1169T>G
P.4 LP/LP RP NP NP NP Yes NP NP NP NP NP BBS1 c.1169T>G /c.1169T>G
P.5 LP/LP RP Yes No No Yes No AA +/− No No BBS1 c.1169T>G /c.1169T>G
P.6 0.05/0.03 RP Yes No No No NP NP NP NP NP BBS1 c.1169T>G/c.1642delC
P.8a 0.02/0.008 RP sp Yes No Yes Yes NP NP NP NP NP BBS2 c.84delC/c.1059dupT
BBS1 c.1702G>A/N
P.9 0.02/0.02 RP No No No Yes sensorineural AA −/− positional NY > latency I,III,V BBS2 c.225T>G/c.225T>G
P.12 LP/LP RP Yes No Yes Yes NP NP NP NP NP BBS10 c.2137_2140del/c.962A>G
BBS2 c.535-79_90del/N
P.13 0.03/0.08 RP Yes Yes Yes Yes sensorineural AA +/+ No No BBS10 c.235dupA/c.271dupT
P.14 LP/LP RP NP NP NP NP NP NP NP NP NP BBS10 c.509T>C/c.509T>C
P.15 LP/LP RP Yes No Yes Yes sensorineural AA +/+ positional NY No BBS10 c.641T>A/c.641T>A
  1. F female, M male, R right, L left, RP retinitis pigmentosa, sp sine pigmento, + partially present, − absent, NY nystagmus, LP light perception, NP not performed, N normal sequence
  2. aDied of heart failure