Ask about this productRelated genes to: BBS6 antibody
- Gene:
- MKKS NIH gene
- Name:
- McKusick-Kaufman syndrome
- Previous symbol:
- BBS6
- Synonyms:
- -
- Chromosome:
- 20p12.2
- Locus Type:
- gene with protein product
- Date approved:
- 1998-09-08
- Date modifiied:
- 2018-09-26
Related products to: BBS6 antibody
Related articles to: BBS6 antibody
- Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with multisystem involvement, including retinal dystrophy, obesity, polydactyly, renal anomalies, hypogonadism, and cognitive impairment. Early diagnosis is often delayed due to gradual symptom onset. The revised diagnostic criteria for BBS, considering molecular diagnosis, ensures diagnostic certainty. - Source: PubMed
Publication date: 2025/09/03
Jena DebarchanPattanaik SudhiranjanSahoo Subhendu KVivek Marrapu VenkataMishra SatyapradaMeher Rajesh KPalai SonaliMishra Shamli - Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a wide range of symptoms and clinical signs. The aim of the current work is to provide a comprehensive overview of the clinical and genetic features of BBS patients, with a focus on ophthalmological manifestations. - Source: PubMed
Publication date: 2025/11/14
Mahler Elisa AKochs Constanze LSaßmannshausen MarleneKünzel Sandrine HWabbels BettinaHolz Frank GHerrmann Philipp - Incomplete cloaca is a rare cloacal variant that refers to a persistent urogenital sinus in girls with the bowel opening anteriorly in the perineum or the vestibule (summary figure). Most of these girls present primarily to pediatric surgeons/urologists as neonatal hydrocolpos. This study outlines the diagnosis and management of this condition while highlighting its association with Bardet-Biedl syndrome (BBS). The latter is a genetically heterogenous group of autosomal recessive disorders characterised by multisystem affection: pigmentary retinopathy, obesity, mental defect, polydactyly, genitourinary abnormalities, and parenchymatous kidney disease. - Source: PubMed
Publication date: 2025/04/26
AbouZeid Amr AbdelhamidSallam Dina ESamak Noha MohsenAbdulbaki Shaimaa GadMohammad Shaimaa AbdelsattarSoliman Sherif M - Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive disorder characterized by a broad spectrum of clinical features including renal anomalies, learning disabilities, postaxial polydactyly, retinal dystrophy, obesity, and hypogonadism. BBS is a heterogeneous syndrome, both genetically and clinically. To date, genetic variants in more than 28 genes have been associated with this syndrome and its subtypes. Most previous studies on BBS have failed to show clear genotype-phenotype correlations. In order to investigate the spectrum of genetic variation among Iranian BBS patients, 9 subjects from 9 different families with clinically diagnosed BBS were included in this study. Following informed consent, we applied exome sequencing (ES) to the proband and their parents. We next performed Sanger sequencing to validate the identified variants. ES successfully detected four known variants: two in the BBS9 gene, c.2014C > T (p.Gln672Ter) and c.1789 + 1 G > A, one variant in the BBS10 gene (c.728_731del; p.Lys243Ilefs*15), and one variant in the MKKS gene (c.515_516del; p.Glu172Alafs*19). ES also detected two new variants in the BBS7 gene, c.880G > C (p.Gly294Arg) and c.719G > A (p.Gly240Asp), one new variant in the CEP290 gene, c.5159C > G (p.Thr1720Arg), and one new variant, in the TTC8 gene, c.462_465del (p.Ser155Glufs*20). In addition, ES identified one novel homozygous deletion of exon 16 in the BBS9 gene. Among the clinical manifestations observed, obesity and polydactyly were the most common findings. Our findings further support the high heterogeneity of BBS: by discovering known, new, and novel pathogenic variants. We expand the mutational spectrum of BBS-related genes and contribute to the understanding of this multisystem disease. - Source: PubMed
Publication date: 2025/04/19
Seyedtaghia Mohammad RezaHabibi MohsenHashemi-Gorji FarzadTehrani-Fateh SahandMoghimi ParinazGolestanifar AhmadGhasemi Mohammad-RezaSadeghi HosseinMirfakhraie RezaMousavi PegahMiryounesi MohammadSalehpour Shadab - Bardet-Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults with BBS as well as the prevalence of genetic variants. - Source: PubMed
Publication date: 2025/03/14
Rustad Cecilie FremstadBragadottir RagnheidurTveten KristianNordgarden HildeMiller Jeanette UllmannÅsten Pamela MarikaVasconcelos GiselaKulseth Mari AnnHolla Øystein LundeOlsen Hanne Grovon der Lippe CharlotteSigurdardottir Solrun