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, obesity, polydactyly, brachydactyly, retinal dystrophy, retinitis pigmentosa, strabismus, cataracts, high-arched palate, hypodontia, hypogonadism, hypogenitalism (male), developmental delay, ataxia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| 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 |
| 3 Old Order Mennonite | |
| Gene: | BBS9 |
| Base Change: | c.829delA |
| Amino Acid Change: | p.Ile277Phefs*4 |
| Last updated: | 2022-11-02 |
| 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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