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

BBS6 gene

The MKKS gene is responsible for autosomal recessive Bardet-Biedl syndrome 6.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 10 days
Specimen type genomic DNA

Related Diseases:

Bardet-Biedl syndrome 06
MKKS

References:

1.

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

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2.

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

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3.

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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4.

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

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5.

Karmous-Benailly H et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

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6.

Stone DL et al. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

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7.

Slavotinek AM et al. (2002) Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.

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8.

Badano JL et al. (2003) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

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9.

NCBI article

NCBI 8195 external link
10.

OMIM.ORG article

Omim 604896 external link
11.

Orphanet article

Orphanet ID 123245 external link
12.

Wikipedia article

Wikipedia EN (MKKS) external link
Update: Aug. 14, 2020
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