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Figure 2.Cis-and trans-acting Bardet-Biedl syndrome (BBS) gene BBS1 expression regulator model.A, Enhancer/promoter variants (cis-acting) may modulate the messenger RNA expression levels of BBS1 and thereby determine the penetrance or expression of disease.Unaffected individuals carry hypomorphic variants (v1 and v2, such as the p.M390R variant) on 1 or 2 highly (+++) expressed BBS1 alleles.
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Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.
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Craniofacial Development. Annita Achilleos, Paul A. Trainor, in Current Topics in Developmental Biology, 2015. 3.2.2 Genetics. To date, mutations in 18 genes have been identified that account for 70-80% of the BBS cases, and they have been classified as BBS1-18.All of the BBS proteins localize to the centrosome/basal bodies or ciliary axoneme, and seven of them form a complex termed the.
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The BBS1 gene provides instructions for making a protein found in cells throughout the body. The BBS1 protein is part of a group (complex) of proteins that plays a critical role in the formation of cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells.
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Muller et al. (2010) screened the BBS1 through BBS12 genes and identified pathogenic mutations in 134 (77%) of 174 BBS families: 117 families had 2 pathogenic mutations in a single gene, and 17 families had a single heterozygous mutation, 8 of which were the BBS1 recurrent mutation M390R (209901.0001).BBS1 and BBS10 were the most frequently mutated genes, each found in 32.6% of families.
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BBS1 (Bardet-Biedl Syndrome 1) is a Protein Coding gene. Diseases associated with BBS1 include Bardet-Biedl Syndrome 1 and Bardet-Biedl Syndrome.Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.Gene Ontology (GO) annotations related to this gene include RNA polymerase II-specific DNA-binding transcription factor binding and.
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Bardet-Biedl Syndrome (BBS), BBS1-Related is an inherited disease that affects many different parts of the body. This condition generally causes vision problems, mild obesity, extra fingers or toes, genital and kidney abnormalities, and learning difficulties. Vision problems result from degeneration of the cone cells of the retina.
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