Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

BBS protein complex-interacting protein

The BBIP1 gene encodes a ciliary receptor protein. It is responsible for autosomal recessive Bardet-Biedl syndrome 18.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 18
BBIP1

References:

1.

Nishimura DY et al. (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

external link
2.

Billingsley G et al. (2010) Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

external link
3.

Hjortshøj TD et al. (2008) Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

external link
4.

Young TL et al. (1999) A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

external link
5.

Iannaccone A et al. (2005) Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.

external link
6.

Katsanis N et al. (2002) BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

external link
7.

Mykytyn K et al. (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

external link
8.

Carmi R et al. (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

external link
9.

Chiang AP et al. (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

external link
10.

Ghadami M et al. (2000) Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

external link
11.

Young TL et al. (1998) Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

external link
12.

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

external link
13.

Badano JL et al. (2003) Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

external link
14.

Sheffield VC et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

external link
15.

Scheidecker S et al. (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

external link
16.

Abu-Safieh L et al. (2012) In search of triallelism in Bardet-Biedl syndrome.

external link
17.

Janssen S et al. (2011) Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

external link
18.

Muller J et al. (2010) Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

external link
19.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

external link
20.

Shah AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.

external link
21.

Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

external link
22.

Tan PL et al. (2007) Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

external link
23.

Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

external link
24.

Moore SJ et al. (2005) Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

external link
25.

Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

external link
26.

Loktev AV et al. (2008) A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.

external link
27.

Cardenas-Rodriguez M et al. (2013) Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.

external link
28.

Seo S et al. (2011) A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

external link
29.

Badano JL et al. (2006) Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

external link
30.

Beales PL et al. (2003) Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

external link
31.

Kiss H et al. (2001) The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3.

external link
32.

Aldahmesh MA et al. (2014) IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

external link
33.

Schaefer E et al. (2014) Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.

external link
34.

Marion V et al. (2012) Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

external link
35.

Deffert C et al. (2007) Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.

external link
36.

Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

external link
37.

Wang X et al. (2013) Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

external link
38.

Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

external link
39.

Xing DJ et al. (2014) Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

external link
40.

Leitch CC et al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

external link
41.

Dulfer E et al. (2010) Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

external link
42.

Stoetzel C et al. (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

external link
43.

Putoux A et al. (2010) BBS10 mutations are common in 'Meckel'-type cystic kidneys.

external link
44.

Stoetzel C et al. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

external link
45.

Nishimura DY et al. (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

external link
46.

Stoetzel C et al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

external link
47.

Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

external link
48.

Harville HM et al. (2010) Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

external link
49.

Chanmugam D et al. (1977) The Laurence-Moon-Biedl syndrome in a Singhalese family.

external link
50.

Chang RJ et al. (1981) Hypogonadotropic hypogonadism associated with retinitis pigmentosa in a female sibship: evidence for gonadotropin deficiency.

external link
51.

Emberger JM et al. (1970) [Digito-palmar dermatoglyphics of a group of Tunisians].

external link
52.

None (1971) Familial translocation t(2p-; 17p+).

external link
53.

Alton DJ et al. (1973) Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome.

external link
54.

Harnett JD et al. (1988) The spectrum of renal disease in Laurence-Moon-Biedl syndrome.

external link
55.

Farag TI et al. (1988) Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.

external link
56.

Green JS et al. (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

external link
57.

Farag TI et al. (1989) High incidence of Bardet Biedl syndrome among the Bedouin.

external link
58.

Croft JB et al. (1990) Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.

external link
59.

Gershoni-Baruch R et al. (1992) Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.

external link
60.

Toledo SP et al. (1977) Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome.

external link
61.

Fan Y et al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

external link
62.

Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

external link
63.

Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

external link
64.

Slavotinek AM et al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome.

external link
65.

Beales PL et al. (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.

external link
66.

Katsanis N et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

external link
67.

Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

external link
68.

Li JB et al. (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

external link
69.

Chiang AP et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

external link
70.

Carmi R et al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

external link
71.

Leppert M et al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

external link
72.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

external link
73.

Pagon RA et al. (1982) Hepatic involvement in the Bardet-Biedl syndrome.

external link
74.

Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

external link
75.

CICCARELLI EC et al. (1961) Laurence-Moon-Biedl syndrome. Report of an unusual family.

external link
76.

None (1956) Laurence-Moon-Biedl syndrome in an Arab boy: familial incidence.

external link
77.

Cox GF et al. (2003) Retinal function in carriers of Bardet-Biedl syndrome.

external link
78.

Mykytyn K et al. (2003) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

external link
79.

Mykytyn K et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

external link
80.

Katsanis N et al. (2001) Exploring the molecular basis of Bardet-Biedl syndrome.

external link
81.

Burghes AH et al. (2001) Genetics. The land between Mendelian and multifactorial inheritance.

external link
82.

Beales PL et al. (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

external link
83.

Lorda-Sanchez I et al. (2000) Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

external link
84.

Young TL et al. (1999) A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.

external link
85.

Katsanis N et al. (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

external link
86.

David A et al. (1999) Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

external link
87.

Woods MO et al. (1999) Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

external link
88.

Bruford EA et al. (1997) Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

external link
89.

Mehrotra N et al. (1997) Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome.

external link
90.

Beales PL et al. (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

external link
91.

Işlek I et al. (1996) Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease.

external link
92.

Elbedour K et al. (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.

external link
93.

Stoler JM et al. (1995) Genital abnormalities in females with Bardet-Biedl syndrome.

external link
94.

Croft JB et al. (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome.

external link
95.

Haning RV et al. (1980) Virilism as a late manifestation in the Bardet-Biedl syndrome.

external link
96.

Schachat AP et al. (1982) Bardet-Biedl syndrome and related disorders.

external link
97.

Orphanet article

Orphanet ID 390746 external link
98.

NCBI article

NCBI 92482 external link
99.

OMIM.ORG article

Omim 613605 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits