Ask about this productRelated genes to: BBS10 Blocking Peptide
- Gene:
- BBS10 NIH gene
- Name:
- Bardet-Biedl syndrome 10
- Previous symbol:
- C12orf58
- Synonyms:
- FLJ23560
- Chromosome:
- 12q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-02-09
- Date modifiied:
- 2019-04-23
Related products to: BBS10 Blocking Peptide
Related articles to: BBS10 Blocking Peptide
- Dental caries (DC), a chronic and multifactorial disease, affects billions of people globally, posing a significant public health challenge. Despite its prevalence, the molecular mechanisms underlying DC and effective pharmacological targets remain elusive. This study leverages Mendelian randomization (MR) and large-scale genomic data to identify potential drug targets for DC. - Source: PubMed
Publication date: 2026/05/18
Bi JunleiLiu AnqiZhang NaChen YuxinLiu ChangqingZhu YongnaWen HebaoMa Caiyun - This study investigated intellectual functioning in individuals with Bardet-Biedl Syndrome (BBS). 96 participants whose retrospective data from intellectual and adaptive skills assessments (Wechsler intelligence scales and Adaptive Behavior Assessment System [ABAS]) included in the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) were analyzed. To obtain a more accurate estimate of intellectual function in the context of vision loss, participants with self-reported legal blindness at the time of assessment and those over the age of 15 were excluded from analyses of visual-spatial skills. For participants for whom a Full-Scale IQ (FSIQ) could be obtained, mean FSIQ was 73.5, 38.3% had a FSIQ of 70 or less. Females had significantly higher FSIQ and visual intellectual skills compared to males. Nearly 60% of participants had verbal intellectual skills in the low average range and above (standard score 80+). Individuals with had significantly stronger verbal intellectual skills compared to individuals with . However, composite adaptive functioning score did not differ between participants with and . While intellectual functioning deficits are relatively common in individuals with BBS, there is a wide range of skill level. The absence of intellectual/cognitive impairment does not preclude a diagnosis of BBS. The lower FSIQ appears to be largely driven by non-verbal skills that rely on vision, which could be contributing to performances even in cases with less severe visual impairment. Individuals with are more likely to have lower verbal intellectual functioning but general adaptive skills were equivalent between the two main BBS subtypes. - Source: PubMed
Publication date: 2026/04/08
Keifer EkaterinaGabor RachelRichardson Jesse GPomeroy JeremyHaws Robert MTucker Ramirez Jessica - Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with multisystem involvement. While BBS1 mutations are common globally, population-specific genetic patterns and phenotype severity vary. This study aimed to investigate genotype-phenotype correlations in an Indian cohort. - Source: PubMed
Publication date: 2026/03/01
Thiriveedi DeepakGoroshi ManjunathGanakumar VanishriGhatnatti Vikrant - Background The Bardet-Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by retinal degeneration, polydactyly, truncal obesity, hypogonadism, and hypogonadotropism. Progressive rod-cone dystrophy leads to early-onset vision loss. Despite increased genetic screening, BBS remains underdiagnosed in Caribbean populations. This study aims to describe the genetic and ocular phenotype of patients with BBS in Puerto Rico and explore genotype-phenotype correlations. Methods We conducted a retrospective chart review of 36 genetically confirmed BBS patients from a hereditary retinal disease clinic in Puerto Rico. Data collected included best-corrected visual acuity (BCVA), refractive error, visual field mean deviation (MD), and macular optical coherence tomography (OCT) measurements (volume and thickness). Genetic testing identified the BBS subtype and zygosity. Descriptive and statistical analyses were performed. The study was approved by a certified institutional review board (IRB). Results Age ranged from three to 69 years old. Mutations in the BBS1 gene were most frequent (86%), followed by BBS7 (8%), BBS10 (3%), and BBS19 (3%). Most patients had homozygous mutations in the BBS1 (%). The mean BCVA was 2.0 logMAR OD and 2.1 logMAR OS. Patients with homozygotic mutations in the BBS1 had worse vision than compound heterozygotes (p=0.025). Upon visual field examination, the MD was -27.6 dB OD and -28.3 dB OS. Near-absent visual fields occurred in patients with advanced disease. Macular volume and thickness averaged 8.2 mm³/227 µm (OD) and 7.7 mm³/216 µm (OS). Structural damage was associated with inner/outer segment disruption on OCT. Conclusions Mutations in the BBS1 are the most frequent in Puerto Rico, often associated with profound visual impairment and retinal thinning. These findings underscore the importance of early ophthalmic evaluation and genetic testing in patients with syndromic retinitis pigmentosa. Genotype-specific differences in visual decline support personalized surveillance and future therapeutic planning. - Source: PubMed
Publication date: 2025/12/16
Vázquez-Folch Sebastián JJiménez-Berríos Gabriel AIzquierdo NatalioGarcia Rodriguez Omar - To analyse the symptoms of Bardet-Biedl Syndrome, and to check the association of BBS10 (Bardet-Biedl syndrome 10 gene), BBS6 (Bardet-Biedl syndrome 6 gene) and BBS12 (Bardet-Biedl syndrome 12 gene) with the pathogenesis of Bardet-Biedl Syndrome. - Source: PubMed
Fatima SehrishAmjad MaryamZehra FaizaSher KhalidKumar SuneelSaleem SaimaZehra Sitwat