ORPHA: 110; DO: 0110136;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 8q22.1 | {Bardet-Biedl syndrome 14, modifier of} | 615991 | Autosomal recessive | 3 | TMEM67 | 609884 |
| 12q21.32 | ?Bardet-Biedl syndrome 14 | 615991 | Autosomal recessive | 3 | CEP290 | 610142 |
A number sign (#) is used with this entry because of evidence that Bardet-Biedl syndrome-14 (BBS14) is caused by homozygous mutation in the CEP290 gene (610142) on chromosome 12q21. One such patient has been reported.
Bardet-Biedl syndrome-14 (BBS14) is an autosomal recessive ciliopathy with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).
For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).
The transmission pattern of BBS14 in the family reported by Leitch et al. (2008) was consistent with autosomal recessive inheritance.
In an 11-year-old female with Bardet-Biedl syndrome from a consanguineous Saudi Arabian family, Leitch et al. (2008) identified homozygosity for a nonsense mutation in the CEP290 gene (610142.0013). The proband also carried a complex allele of the MKS3 gene (609884.0012) in heterozygosity. No family member studied was homozygous for either the CEP290 allele or the MKS3 allele. Studies in zebrafish showed strong genetic interaction between cep290 and mks3. Injection of either cep290 or mks3 morpholino alone resulted in at least 50% of embryos being normal or only mildly affected, whereas injection of both morpholinos together resulted in all embryos being severely affected.
Leitch, C. C., Zaghloul, N. A., Davis, E. E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R. A., Eyaid, W., Banin, E., Dollfus, H., Beales, P. L., Badano, J. L., Katsanis, N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genet. 40: 443-448, 2008. Note: Erratum: Nature Genet. 40: 927 only, 2008. [PubMed: 18327255] [Full Text: https://doi.org/10.1038/ng.97]