Amish, Mennonite, and Hutterite
Genetic Disorder Database

Bardet-Biedl Syndrome

Disorder
OMIM #: #209900  (Click to access OMIM database)
Disorder: Bardet-Biedl Syndrome 
Also known as: BBS, BARDET-BIEDL SYNDROME 1, INCLUDED
BBS1, INCLUDED 
Clinical
Phenotype: kidney malformation, renal insufficiency, hepatic fibrosis, obesity, polydactyly, retinal pigmentation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: OMIM *606151 
Mutations
1   Amish  
Gene: BBS1
Base Change: T>G, at nucleotide 1169
Amino Acid Change: met 390 --> arg
2   Hutterite  
Gene: BBS2
Base Change: c.472-2A>G
Amino Acid Change: splicing defect
Last updated: 2017-08-09 

References
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98.
PubMed ID: 18348266 
Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS.. (2010) A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.. Clin Genet. 5:424-31.
PubMed ID: 20618352 
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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