ORPHA: 110; DO: 0110133;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 9q33.1 | ?Bardet-Biedl syndrome 11 | 615988 | Autosomal recessive | 3 | TRIM32 | 602290 |
A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-11 (BBS11) is caused by mutation in the TRIM32 gene (602290) on chromosome 9q33. One such family has been reported.
Bardet-Biedl syndrome-11 (BBS11) is a pleiotropic autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities, learning disabilities, and hypogenitalism (Chiang et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
Chiang et al. (2006) reported an Israeli Bedouin family in which 4 sibs had Bardet-Biedl syndrome and mutation in the TRIM32 gene. The diagnosis was based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities.
The transmission pattern of BBS11 in the family reported by Chiang et al. (2006) was consistent with autosomal recessive inheritance.
Chiang et al. (2006) studied a consanguineous Bedouin family with 4 sibs with BBS in which linkage studies had failed to identify a disease locus. High-density SNP genotyping identified a 2.4-Mb region of homozygosity linked to the phenotype. DNA sequencing of the entire coding sequence and consensus splice sites of the 6 genes within the 2.4-Mb interval revealed a single potential disease-causing variant in the 4 affected sibs, a homozygous transition resulting in a proline-to-serine substitution at codon 130 (P130S; 602290.0002) in TRIM32.
Chiang, A. P., Beck, J. S., Yen, H.-J., Tayeh, M. K., Scheetz, T. E., Swiderski, R. E., Nishimura, D. Y., Braun, T. A., Kim, K.-Y. A., Huang, J., Elbedour, K., Carmi, R., Slusarski, D. C., Casavant, T. L., Stone, E. M., Sheffield, V. C. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc. Nat. Acad. Sci. 103: 6287-6292, 2006. [PubMed: 16606853] [Full Text: https://doi.org/10.1073/pnas.0600158103]