Novel mutations in BBS5 in non-Caucasian Bardet–Biedl syndrome patients
Author Information
Author(s): Hjortshøj Tina Duelund, Grønskov Karen, Philp Alisdair R, Nishimura Darryl Y, Adeyemo Adebowale, Rotimi Charles N, Sheffield Val C, Rosenberg Thomas, Brøndum-Nielsen Karen
Primary Institution: Kennedy Center, Medical Genetics Laboratory, Glostrup, Denmark
Hypothesis
The study investigates the presence of novel mutations in the BBS5 gene among non-Caucasian patients with Bardet–Biedl syndrome.
Conclusion
The study identifies two novel missense mutations in the BBS5 gene that are likely pathogenic and absent in control chromosomes.
Supporting Evidence
- Both mutations are present in the homozygous state in the patients.
- The mutations were absent in control chromosomes.
- Screening of 60 patients from Northern Europe revealed no mutations in BBS5.
- The mutations are localized within conserved regions of the gene.
Takeaway
Researchers found two new changes in a gene called BBS5 that can cause a rare disease in some families from Somalia and Sri Lanka.
Methodology
The study involved mutation analysis of the BBS5 gene in five patients from two families, using DNA sequencing and SNP genotyping.
Limitations
The study had a small sample size and lacked family members for testing in one case.
Participant Demographics
The participants included five BBS patients from two nonconsanguineous families, one Somali and one Sri Lankan.
Digital Object Identifier (DOI)
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