OMIM: 209900Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet   
Gene Tests   
Clinical Synopsis   
Clinical TrialsGene/Locus: |    BBS2 |
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Dna Change: |    c.565C>T |
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Protein Change: |    p.Arg189X |
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Mutation Type: |    Substitution |
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Mutation Effect: |    Nonsense |
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Location: |    exon 5 |
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Transcript: |    NM_031885.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Tunisia | NA | NA | 2 unrelated families/19 families | NA | Smaoui N et al., 2006Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M'Rad R, Chaabouni H, Hejtmancik JF, . Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.. Invest. Ophthalmol. Vis. Sci.. 2006; 47(8):3487-95 |
References
Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M'Rad R, Chaabouni H, Hejtmancik JF, Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.Invest. Ophthalmol. Vis. Sci.. 2006; 47(8):3487-95