SR303
Bardet Biedl Syndrome (IB2)
Male
Male
SR303
Bardet Biedl Syndrome (IB2)
Male
Male
Highlighted Images
| Age at visit: 37 years | OD | OS |
|---|---|
History
This 37 year old man has had poor vision in dim light and some constriction of his peripheral vision since age 5. He has profound deafness and uses a tactile sign language interpreter for communication. He has a great great aunt who was profoundly deaf (sign language) who had normal vision.
Pedigree
| Age at visit: 37 years |
| Age at visit: 45 years |
| Age at visit: 49 years |
| Age at visit: 51 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS1 | Met390Arg ATG>AGG, IVS1-2 A>G (SLC26A4) | Met390Arg ATG>AGG, Leu236Pro CTA>CCA (SLC26A4) | AR |
Disease:
Gene:
Allele 1:
Met390Arg ATG>AGG, IVS1-2 A>G (SLC26A4)
Allele 2:
Met390Arg ATG>AGG, Leu236Pro CTA>CCA (SLC26A4)
Inheritance:
AR