OMIM: 209900Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/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