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

Bardet-Biedl syndrome 06

Bardet-Biedl syndrome 6 is an autosomal recessive disorder caused by mutations in the MKKS gene.

Systematic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 01
Bardet-Biedl syndrome 02
Bardet-Biedl syndrome 03
Bardet-Biedl syndrome 04
Bardet-Biedl syndrome 05
Bardet-Biedl syndrome 06
MKKS
Bardet-Biedl syndrome 07
Bardet-Biedl syndrome 08
Bardet-Biedl syndrome 09
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 20

References:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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
5.

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

external link
6.

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

external link
7.

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
8.

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
9.

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

external link
10.

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
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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
28.

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

external link
29.

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
30.

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
31.

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

external link
32.

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
33.

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

external link
34.

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

external link
35.

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

external link
36.

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

external link
37.

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

external link
38.

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

external link
39.

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

external link
40.

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

external link
41.

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

external link
42.

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

external link
43.

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

external link
44.

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

external link
45.

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
46.

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

external link
47.

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

external link
48.

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
49.

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

external link
50.

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

external link
51.

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

external link
52.

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

external link
53.

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
54.

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

external link
55.

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
56.

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

external link
57.

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

external link
58.

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
59.

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

external link
60.

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

external link
61.

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

external link
62.

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

external link
63.

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

external link
64.

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

external link
65.

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

external link
66.

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

external link
67.

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

external link
68.

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

external link
69.

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

external link
70.

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

external link
71.

OMIM.ORG article

Omim 605231 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