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

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

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
Cognitive skills Language skills Motor skills Hands Feet Renal anomalies Hepatic steatosis Hypercholesterolemia Hypogonadism Other
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 BBS2a 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 BBS12a 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 BBS1a M 28mo RP OW no no no no yes, both no no no yes   no 110.2 91.2
11 BBS4a 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
  1. 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
  2. aindicates an additional mutant BBS gene