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Bardet-Biedl-Syndrom 19

Das Bardet-Biedl-Syndrom 19 ist eine autosomal rezessive Erkrankung, die durch Mutationen im IFT27-Gen hervorgerufen wird.

Gliederung

Bardet-Biedl-Syndrom
Bardet-Biedl-Syndrom 01
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Bardet-Biedl-Syndrom 18
Bardet-Biedl-Syndrom 19
IFT27
Bardet-Biedl-Syndrom 20

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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.

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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.

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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.

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25.

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

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26.

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

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27.

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.

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28.

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

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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.

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35.

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

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36.

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

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37.

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

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38.

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

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39.

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

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40.

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

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41.

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

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42.

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

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43.

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.

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44.

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

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45.

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

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46.

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

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47.

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

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48.

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

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49.

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

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50.

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

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51.

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

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52.

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

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53.

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

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54.

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

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55.

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

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56.

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

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57.

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

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58.

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

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59.

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

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60.

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

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61.

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.

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62.

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

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63.

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

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64.

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

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65.

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

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66.

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

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67.

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

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68.

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

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69.

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70.

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

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71.

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

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72.

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

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73.

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

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74.

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

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75.

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

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76.

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

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77.

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

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78.

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.

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79.

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

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80.

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

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81.

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

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82.

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

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83.

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

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84.

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

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85.

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

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86.

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

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87.

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

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88.

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

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89.

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

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90.

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

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91.

OMIM.ORG article

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Update: 14. August 2020
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