Format

Send to

Choose Destination
J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22.

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Author information

1
1] Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran [2] Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
2
Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
3
University of California, San Diego, La Jolla, CA, USA.
4
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
5
1] Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran [2] Women's College Research Institute, Women's College Hospital, Toronto, Canada [3] Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.

Abstract

Bardet-Biedl syndrome (BBS) is a rare ciliopathy disorder that is clinically and genetically heterogeneous with 18 known genes. This study was performed to characterize responsible genes and mutation spectrum in a cohort of 14 Iranian families with BBS. Sanger sequencing of the most commonly mutated genes (BBS1, BBS2 and BBS10) accounting for ∼50% of BBS patients determined mutations only in BBS2, including three novel mutations. Next, three of the remaining patients were subjected to whole exome sequencing with 96% at 20 × depth of coverage that revealed novel BBS4 mutation. Observation of no mutation in the other patients represents the possible presence of novel genes. Screening of the remaining patients for six other genes (BBS3, BBS4, BBS6, BBS7, BBS9 and BBS12) revealed five novel mutations. This result represents another indication for the genetic heterogeneity of BBS and extends the mutational spectrum of the disease by introducing nine novel mutations in five BBS genes. In conclusion, although BBS1 and BBS10 are among the most commonly mutated genes in other populations like Caucasian, these two seem not to have an important role in Iranian patients. This suggests that a different strategy in molecular genetics diagnostic approaches in Middle Eastern countries such as Iran should be considered.

PMID:
24849935
DOI:
10.1038/jhg.2014.28
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center