Gene: BBS10

Alternate names for this Gene: C12orf58

Gene Summary: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10.

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.2

Description of this Gene: Bardet-Biedl syndrome 10

Type of Gene: protein-coding

rs1057517031 in BBS10 gene and BARDET-BIEDL SYNDROME 10 PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 25988237 2016 Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

PMID 21463199 2011 BBS mutational analysis: a strategic approach.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 23219996 2013 Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 28808579 2017 A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 27659767 2017 Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

PMID 26003401 2015 Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

PMID 27788217 2016 Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

PMID 24400638 2015 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

PMID 24746959 2014 Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

PMID 27385962 2016 Bardet-Biedl Syndrome.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 17106446 2007 Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

PMID 21044901 2011 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

PMID 25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.

PMID 24611592 2014 Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 25170860 2014 Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

PMID 21157496 2011 Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 21517826 2011 Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

PMID 25982971 2015 Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 22958920 2012 BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 24041679 2014 Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

rs1156913215 in BBS10 gene and Bardet-Biedl Syndrome PMID 20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

PMID 27486776 2016 Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

PMID 25982971 2015 Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 19190184 2009 Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

PMID 25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 27385962 2016 Bardet-Biedl Syndrome.

PMID 5982971 1966 [Proposals for the drug section of the DAB 7. 16: Thyme leaves].

PMID 27788217 2016 Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

PMID 28808579 2017 A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 21044901 2011 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

PMID 17106446 2007 Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 21157496 2011 Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 27245532 2016 Bardet Biedl syndrome in South Africa: A single founder mutation.

PMID 24041679 2014 Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

rs1555202806 in BBS10 gene and Multiple congenital anomalies PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 22713813 2013 Bardet-Biedl syndrome.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

rs549625604 in BBS10 gene and Muscle hypotonia PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 22713813 2013 Bardet-Biedl syndrome.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

rs1555202806 in BBS10 gene and Overgrowth PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 22713813 2013 Bardet-Biedl syndrome.

rs549625604 in BBS10 gene and Retinitis Pigmentosa PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.