2024年12月24日 · BBS9 (Bardet-Biedl Syndrome 9) is a Protein Coding gene. Diseases associated with BBS9 include Bardet-Biedl Syndrome 9 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene. [4] [5] The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in …

2025年1月4日 · Comparative genomics and gene expression analysis identifies PHTB1 protein as BBS9, a new Bardet-Biedl syndrome gene. This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined.

Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for …

Results: BBS9 has four folded domains, based on structure prediction; the N-terminal domain is a β-propeller. Conclusion: BBS9 likely acts as a scaffold component in the BBSome coat. Significance: The structural data help in understanding a …

2021年3月26日 · Molecular analysis revealed a homozygous novel RNA-splicing alteration in the BBS9 gene and allowed to identify the contribution of this splicing variant encoding for an alternative parathyroid hormone-responsive B1 (PTHB1) protein.

2024年12月10日 · Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. Khan MA, Mohan S, Zubair M, Windpassinger CKhan MA, et al .

BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).

2021年10月15日 · We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing.

The identification of BBS9 illustrates the power of using a combination of comparative genomic analysis, gene expression studies, and homozygosity mapping with SNP arrays in small, consanguineous families for the identification of rare autosomal recessive disorders.