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BMJ Case Reports Jan 2021Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment,...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadism, renal abnormalities, and rarely, laryngeal webs or bifid epiglottis. Most patients present with obesity. Multiple genes are involved in causation of BBS and there is also evidence of triallelic inheritance. We herein report an Asian boy who had weak cry and stridor since birth, and on evaluation was found to have both laryngeal web and bifid epiglottis. Mutation analysis revealed a homozygous variant in BBS10 gene.
Topics: Bardet-Biedl Syndrome; Bronchoscopy; Chaperonins; Epiglottis; Fingers; Frameshift Mutation; Humans; Hypothyroidism; Infant; Larynx; Male; Pediatric Obesity; Polydactyly; Thyroxine; Toes
PubMed: 33509858
DOI: 10.1136/bcr-2020-236325 -
Human Molecular Genetics Apr 2004Bardet-Biedl syndrome (BBS: OMIM 209900) is a rare developmental disorder that exhibits significant clinical and genetic heterogeneity. Although modeled initially as a... (Review)
Review
Bardet-Biedl syndrome (BBS: OMIM 209900) is a rare developmental disorder that exhibits significant clinical and genetic heterogeneity. Although modeled initially as a purely recessive trait, recent data have unmasked an oligogenic mode of disease transmission, in which mutations at different BBS loci can interact genetically in some families to cause and/or modify the phenotype. Here, I will review and discuss recent advances in elucidating both genetic and cellular aspects of this phenotype and their potential application in understanding the genetic basis of phenotypic variability and oligogenic inheritance.
Topics: Adaptor Proteins, Signal Transducing; Alleles; Bardet-Biedl Syndrome; Cytoskeletal Proteins; Genetic Predisposition to Disease; Group II Chaperonins; Humans; Microtubule-Associated Proteins; Molecular Chaperones; Multifactorial Inheritance; Mutation; Proteins
PubMed: 14976158
DOI: 10.1093/hmg/ddh092 -
The Journal of Clinical Investigation Mar 2009Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo... (Review)
Review
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss the evidence linking the clinical BBS phenotype to ciliary defects, highlight how the genetic and cellular characteristics of BBS overlap with and inform other ciliary disorders, and explore the possible mechanistic underpinnings of ciliary dysfunction.
Topics: Animals; Bardet-Biedl Syndrome; Chromosome Mapping; Cilia; Ciliary Motility Disorders; Humans; Obesity; Phenotype; Polydactyly; Prevalence; Retinal Diseases; Vertebrates
PubMed: 19252258
DOI: 10.1172/JCI37041 -
Journal of Cell Science Aug 2021Components of the intraflagellar transport (IFT) system that regulates the assembly of the primary cilium are co-opted by the non-ciliated T cell to orchestrate...
Components of the intraflagellar transport (IFT) system that regulates the assembly of the primary cilium are co-opted by the non-ciliated T cell to orchestrate polarized endosome recycling and to sustain signaling during immune synapse formation. Here, we investigated the potential role of Bardet-Biedl syndrome 1 protein (BBS1), an essential core component of the BBS complex that cooperates with the IFT system in ciliary protein trafficking, in the assembly of the T cell synapse. We demonstrated that BBS1 allows for centrosome polarization towards the immune synapse. This function is achieved through the clearance of centrosomal F-actin and its positive regulator WASH1 (also known as WASHC1), a process that we demonstrated to be dependent on the proteasome. We show that BBS1 regulates this process by coupling the 19S proteasome regulatory subunit to the microtubule motor dynein for its transport to the centrosome. Our data identify the ciliopathy-related protein BBS1 as a new player in T cell synapse assembly that functions upstream of the IFT system to set the stage for polarized vesicular trafficking and sustained signaling. This article has an associated First Person interview with the first author of the paper.
Topics: Bardet-Biedl Syndrome; Cell Polarity; Cilia; Endosomes; Humans; Microtubule-Associated Proteins; Synapses; T-Lymphocytes
PubMed: 34423835
DOI: 10.1242/jcs.258462 -
Ophthalmic Genetics Jun 2021: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the gene: Two brothers ages 26 (Patient 1, P1)...
: To provide a detailed ophthalmic phenotype of two male patients with Bardet-Biedl Syndrome (BBS) due to mutations in the gene: Two brothers ages 26 (Patient 1, P1) and 23 (P2) underwent comprehensive ophthalmic evaluations over three years. Visual function was assessed with full-field electroretinograms (ffERGs), kinetic and chromatic perimetry, multimodal imaging with spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) with short- (SW) and near-infrared (NIR) excitation lights and adaptive optics scanning light ophthalmoscopy (AOSLO).: Both siblings had a history of obesity and postaxial polydactyly; P2 had diagnoses of type 1 Diabetes Mellitus, Addison's disease, high-functioning autism-spectrum disorder and -12D myopia. Visual acuities were better than 20/30. Kinetic fields were moderately constricted. Cone-mediated ffERGs were undetectable, rod ERGs were ~80% of normal mean. Static perimetry showed severe central cone and rod dysfunction. Foveal to parafoveal hypoautofluorescence, most obvious on NIR-FAF, co-localized with outer segment shortening/loss and outer nuclear layer thinning by SD-OCT, and with reduced photoreceptors densities by AOSLO. A structural-functional dissociation was confirmed for cone- and rod-mediated parameters. Worsening of the above abnormalities was documented by SD-OCT and FAF in P2 at 3 years. Gene screening identified compound heterozygous mutations in (p.Val266Glu: c.797 T > A of maternal origin; c.1781_1783delCAT, paternal) in both patients.: -associated retinal degeneration may present as a progressive cone-rod dystrophy pattern, reminiscent of both the murine and non-human primate models of the disease. Predominantly central retinal abnormalities in both cone and rod photoreceptors showed a structural-functional dissociation, an ideal scenario for gene augmentation treatments.
Topics: Adaptor Proteins, Signal Transducing; Adult; Bardet-Biedl Syndrome; Cone-Rod Dystrophies; Cytoskeletal Proteins; Electroretinography; Genetic Therapy; Humans; Male; Models, Animal; Mutation; Ophthalmoscopy; Optical Imaging; Phenotype; Retina; Siblings; Tomography, Optical Coherence; Visual Acuity; Visual Field Tests; Young Adult
PubMed: 33729075
DOI: 10.1080/13816810.2021.1888132 -
American Journal of Medical Genetics Nov 2000Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of... (Comparative Study)
Comparative Study Review
Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical features that allow discrimination between the two syndromes as the primary features of retinitis pigmentosa, obesity, learning disability in BBS are age-dependent. We did not find any phenotypic features that allowed reliable differentiation between the two syndromes in the neonatal period. However, uterine, ovarian, and fallopian tube anomalies are more common in BBS patients, and it may be that these clinical features prove to be useful discriminating features. We conclude that sporadic female infants with HMC and PAP cannot be diagnosed with MKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients.
Topics: Abnormalities, Multiple; Adult; Age of Onset; Bardet-Biedl Syndrome; Child; Child, Preschool; Diagnosis, Differential; Ethnicity; Fallopian Tubes; Family Health; Female; Humans; Infant; Infant, Newborn; Male; Multiple Organ Failure; Ovary; Phenotype; Pregnancy; Syndrome; Urogenital Abnormalities; Uterus
PubMed: 11102925
DOI: No ID Found -
EMBO Reports Feb 2021Bardet-Biedl syndrome (BBS) is a genetic disorder caused by the dysfunction of the primary cilium. To date, immunological defects in the disease have not been...
Bardet-Biedl syndrome (BBS) is a genetic disorder caused by the dysfunction of the primary cilium. To date, immunological defects in the disease have not been systematically assessed. In this issue, Tsyklauri and colleagues find, through detailed analysis of BBS mutant animals, that B-cell development is altered in mutant mice (Tsyklauri et al, 2021). The authors further report that BBS patients are more susceptible to autoimmune disorders. This study sheds new light on the potential role of primary cilia in controlling immune function in disease.
Topics: Animals; Autoimmune Diseases; Bardet-Biedl Syndrome; Cilia; Hematopoiesis; Humans; Mice
PubMed: 33511755
DOI: 10.15252/embr.202052180 -
Documenta Ophthalmologica. Advances in... Apr 2023Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central obesity, polydactyly, cognitive...
BACKGROUND
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central obesity, polydactyly, cognitive impairment, hypogonadism and/or genitourinary malformations, and kidney abnormalities. At least 21 genes associated with BBS have been reported. To date, BBS associated with BBS12 variants has never been described in the Japanese population. We report a Japanese infant female with BBS with compound heterozygous BBS12 variants.
METHODS
In addition to the pediatric examination, fundus photography, full-field electroretinogram(ffERG) and whole exome sequencing (WES) were underwent.
RESULTS
The infant exhibited obesity, polydactyly, cognitive impairment, genitourinary malformations, and kidney dysfunction. At the age of 2 years, ffERG revealed severe reduction in both rod- and cone-mediated electroretinographic responses consistent with a severe form of rod-cone dystrophy, with minimal retinal abnormalities. WES revealed novel compound heterozygous BBS12 variants (c.591T > A, p.Tyr197* and c.1372dupA, p.Thr458Asnfs*5) in the infant. Her parents carried each of the variants, as confirmed by Sanger sequencing.
CONCLUSIONS
The current observations will contribute to an expanded understanding of genotype-phenotype associations in BBS12-associated BBS.
Topics: Female; Humans; Bardet-Biedl Syndrome; Cone-Rod Dystrophies; Electroretinography; Mutation; Polydactyly
PubMed: 36574078
DOI: 10.1007/s10633-022-09915-6 -
International Journal of Dermatology Nov 2011
Review
Topics: Adolescent; Alopecia; Bardet-Biedl Syndrome; Female; Humans; Polycystic Ovary Syndrome; Psoriasis
PubMed: 22004490
DOI: 10.1111/j.1365-4632.2011.04917.x -
JNMA; Journal of the Nepal Medical... 2008Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. We report a case of...
Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. We report a case of Laurence-Moon-Bardet-Biedl syndrome with typical phenotype in conjunction with nonalcoholic steatohepatitis. The diagnosis had been missed until the patient presented at our hospital.
Topics: Bardet-Biedl Syndrome; Child; Diagnosis, Differential; Diet, Carbohydrate-Restricted; Exercise Therapy; Fatty Liver; Follow-Up Studies; Humans; Male
PubMed: 19079403
DOI: No ID Found