Identification of a novel compound heterozygous mutation in BBS12 in an Iranian family with bardet-biedl syndrome using targeted next generation sequencing

Bardet-Biedl syndrome [BBS] is a pleiotropic and multisystemic disorder characterized by rod-cone dystrophy, polydactyly, learning difficulties, renal abnormalities, obesity and hypogonadism. This disorder is genetically heterogeneous. Until now, a total of nineteen genes have been identified for BBS whose mutations explain more than 80% of diagnosed cases. Recently, the development of next generation sequencing [NGS] technology has accelerated mutation screening of target genes, resulting in lower cost and less time consumption. Here, we screened the most common BBS genes [BBS1-BBS13] using NGS in an Iranian family of a proposita displaying symptoms of BBS. Among the 18 mutations identified in the proposita, one [BBS12 c.56T>G and BBS12 c.1156C>T] was novel. This compound heterozygosity was confirmed by Sanger sequencing in the proposita and her parents. Although our data were presented as a case report, however, we suggest a new probable genetic mechanism other than the conventional autosomal recessive inheritance of BBS. Additionally, given that in some Iranian provinces, like Khuzestan, consanguineous marriages are common, designing mutational panels for genetic diseases is strongly recommended, especially for those with an autosomal recessive inheritance pattern

Lipid profile improvement after four group psychological interventions in combination to nutritional and physical activity instructing among overweight and obese individuals

Research background approved weight loss would result in improvement of lipid profile. Nowadays, weight management is attained by modifying psychological mediators, as well as dieting and making individuals do more physical activity. Hence, This research was performed to compare effectiveness of different psychological interventions on lipid profile improvement among individuals with overweight and obesity. Using quasi- experimental design, 68 participants with mean age 26 years and 9 months [ranged from 20 to 43] were randomly assigned into 4 groups [including LEARN, CBT, CT, and MCT], and eventually 61 participants completed the treatment protocols. BMI was calculated by Omron digital body composition instrument, and blood lipids and glucose concentrations were measured prior to and after all interventions. Data analysis by using t- test for dependent groups analysis revealed lipid profile, FBS, and BMI were significantly modified after applying 4 interventions comparing baseline and post treatment mean differences [P<0.05]. Furthermore, repeated measure design analysis showed there were significant mean differences [P<0.05] in HDL cholesterol, TG levels and FBS levels among 4 groups. Scheffe test revealed more detailed significant differences among four groups in HDL cholesterol, and FBS concentration varieties [P<0.05]. Adding psychological interventions to dietary plans and regular physical activities in overweight management would consider as a valuable step in optimizing physiological outcomes and that's because of correcting mind- body interactional pathways among obese and overweight individuals