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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