Table 2.

Comparative genotype-phenotype correlation analysis in BBS patients

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

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

^aDied of heart failure