Phenotype: Bardet-Biedl syndrome 2


OMIM: 209900
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

BBS2 || c.565C>T

Gene/Locus:    BBS2
Dna Change:    c.565C>T
Protein Change:    p.Arg189X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 5
Transcript:    NM_031885.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA2 unrelated families/19 familiesNASmaoui 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