Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

Table 2 Clinical manifestations of Bardet-Biedl syndrome patients with resolved genotype

ID	Main gene	Sex	Onset	Ocular disease	BMI (Kg/m2)	Intellectual disabilities affecting:			Hexadactyly		Additional features					Consanguineity	Mean depth coverage (X)	Target coverage at 25X
ID	Main gene	Sex	Onset	Ocular disease	BMI (Kg/m2)	Cognitive skills	Language skills	Motor skills	Hands	Feet	Renal anomalies	Hepatic steatosis	Hypercholesterolemia	Hypogonadism	Other	Consanguineity	Mean depth coverage (X)	Target coverage at 25X
1	BBS2	M	13 yrs	RP	O	no	no	no	yes, right	yes, both	no	no	no	yes	yes		197.37	97.3
2	BBS10	M	6 yrs	RP	O	no	no	no	yes, both	no	yes	N/K	yes	N/K		no	190.6	96.5
3	BBS7	M	6mo	CRD	O	mild	mild	mild	yes, both	yes, both	yes	N/K	N/K	yes		N/K	214.8	97.2
4	BBS2^a	F	2 yrs	CRD + HM	37, O	mild	mild	mild	yes, both	yes, both	no	yes	no	yes	yes	no	264.13	97.5
5	BBS10	M	since birth	HM + RP	24.9, OW	yes	yes	yes	yes, both	yes, both	yes	no	no	no			184.6	96.8
6	BBS12^a	F	since birth	RP	no	yes	yes	yes	no	yes, both	yes	no	no	yes		no	226.11	97.2
7	BBS10	F	18mo	RP	31.6, O	no	no	no	yes, left	no	yes	no	no	no			283.18	98.3
8	BBS10	M	17 yrs	RP	30.2, O	yes	no	no	no	yes, both	no	no	no	no		no	181.03	97.0
9	BBS12	F	5 yrs	HM + C	29.3, OW	no	no	no	yes, both	yes, both	no	no	no	no			150.6	99.0
10	BBS1^a	M	28mo	RP	OW	no	no	no	no	yes, both	no	no	no	yes		no	110.2	91.2
11	BBS4^a	M	6mo	RP	26.4, OW	yes	yes	yes	yes, both	yes, both	no	yes	no	yes		no	160.7	92.5
12	BBS6	M	18mo	RP	30, O	no	yes	no	yes, right	yes, both	no	no	no	yes		distant kinship	197.61	93.2
Sister of 12	BBS6	F	18mo	RP	28.0, OW	no	no	no	no	yes, left	no	no	no	no		distant kinship	–	–

Abbreviations: M male, F female, yrs. years, mo months, RP retinitis pigmentosa, CRD cone-rod dystrophy, HM high myopia, C cataract, O obese, OW overweight, N/K not known
^aindicates an additional mutant BBS gene

ISSN: 1824-7288