Abstract
Bardet- Biedl syndrome (BBS, MIM#209900) is an autosomal recessive disease of unknown etiology that exhibits phenotypic and genetic heterogeneity. Characteristic clinical features includes retinitis pigmentosa, obesity, hypogenitalism, polydactyly, and mental retardation. We have studied 7 large inbred families in Puerto Rico (PR) with BBS and found linkage to chromosome 11 q locus. We performed physical and biochemical examinations on 21 patients (18 males, 3 females) and 244 family members. Evaluation included ophthalmology examination, renal/ liver ultrasound, renal function tests, and developmental assessment. All patients exhibited obesity, polydactyly, mental retardation and retina degeneration. Heterozygotes for the BBS ( obligate carriers) exhibited a 67% rate of obesity, 58% rate of diabetes and 42 % rate of hypertension. Median Body Mass Index (BMI) of patients was 33.7kg/m2, 30.0kg/m2 in heterozygotes (obligate carriers), and 29.6 kg/m2 in family members with unknown genotype. To further investigate BBS we evaluated serum concentrations of leptin, cholesterol, triglycerides, low-density, and high-density lipoprotein levels on 11 patients and 56 family members including 12 obligate carriers. The mean leptin concentration was 39.3 ng/ml in patients. These patients average BMI was 30 kg/m2 and presented leptin average of 136.7 ng/ml and a median of 136.7 in females and an average of 19.9 and median of 30.4 in males. Obligate carriers BMI media was 29.8 kg/m2 and leptin concentrations showed a media of 15 ng/ml and a median of 16.3 ng/ml; five-fold less than affected patients although BMI were essentially the same. Normal leptin values for PR adolescents: males: 2.8 ng/ml ± 1.1; females 13.6 ng/ml ± 3.1.
We conclude that leptin correlates with BMI in patients with BBS having a mean leptin concentration that is 8 fold higher than normal weight adolescents. Furthermore the ration of serum leptin in affected females to affected males is similar to the ration observed in normal adolescents. There is a 2:1 fold increase in females and a 3:1 fold increase in males obligate carrier of the BBS gene in comparison with obese females and males with similar age and BMI. We proposed that having the BBS-PR gene does predispose to higher leptin levels in comparison with controls.
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Santiago-Cornier, A., Arias, W., Soto, R. et al. Serum Leptin Concentration and Lipid Profiles in Puerto Rican Bardet-Biedl Syndrome. Genet Med 1, 63 (1999). https://doi.org/10.1097/00125817-199901000-00087
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DOI: https://doi.org/10.1097/00125817-199901000-00087