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. Author manuscript; available in PMC: 2009 Feb 1.
Published in final edited form as: Vision Res. 2007 Nov 5;48(3):392–399. doi: 10.1016/j.visres.2007.08.024

Table 1.

Genotype–phenotype Summary

Case # Gender Gene Mutation Age (years) Kidney anomaly Liver anomaly Digit anomaly Limb # Weight Cognitive impairment
2597 F BBS1 M390R/M390R 20.6 No No Polydactyly 1 Overweight Learning disability
2512 F BBS1 M1V†/M1V† 28.5 No No Brachydactyly NA Obese No
2301 F BBS1 D8D/R483X 15.8 Yes Yes Polydactyly 4 Obese Dev delayed
2293 M BBS1 M390R/N524del† 20.8 No No NA NA Obese Dev delayed
2296 M BBS10 C91W/A474fs483X 11.9 Yes No Polydactyly 4 Overweight Dev delayed/Autistic
2621 M BBS10 C91W/A474fs483X 13.6 Yes No Clinodactyly 2 Obese NA
2213 F BBS10 C91W/V707fs708X 13.5 Yes No Polydactyly 1 Overweight Dev delayed
2294 F BBS10 C91fs95X/R103fs110X† 15.5 Yes No Polydactyly 4 Overweight Dev delayed
†

novel mutation; Age, age at time of kidney and liver blood work assessment; Kidney anomaly, defined as either abnormal function as per electrolyte and elevated creatinine and urea levels and/or abnormal kidney ultrasound; Liver anomaly, defined as either elevated liver enzymes and/or abnormal liver ultrasound; Weight, based on percentile for body mass index-for-age; Obese: >95th percentile and Overweight: 85th–95th percentile; NA, not available; Limb#, refers to the numbers of limbs affected with a digit anomaly.