BACKGROUND/AIM: Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found. METHODS: Patients were identified from the files of the Retinitis Pigmentosa Register at the National Eye Clinic, Denmark. The diagnosis of Bardet-Biedl syndrome was verified from medical files. Mutational screening of BBS1, BBS2, BBS4, MKKS and BBS10 was done by denaturing high-performance liquid chromatography. RESULTS: Out of 13 prevalent cases in the Faroe Islands, 10 patients from nine families were included. A novel splice site mutation in BBS1, c.1091+3G>C, was identified, and this was predicted to affect protein function by skipping 16 amino acids. Nine patients were homozygous for this mutation, while one patient was compound heterozygous with a recurrent BBS1 mutation, p.Met390Arg. The patients presented with severe ophthalmic phenotypes, while the systemic manifestations of the disease were apparently milder. CONCLUSION: A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. The phenotypic expression of the Faroese patients suggests that different mutations in BBS1 affect various organs differently.
BACKGROUND/AIM: Bardet-Biedl syndrome is a multiorgan disease presenting with retinitis pigmentosa leading to blindness. The aim of the study was to investigate the genetic background of Bardet-Biedl syndrome in the Faroe Island. It was hypothesised that a common genetic background for the syndrome would be found. METHODS:Patients were identified from the files of the Retinitis Pigmentosa Register at the National Eye Clinic, Denmark. The diagnosis of Bardet-Biedl syndrome was verified from medical files. Mutational screening of BBS1, BBS2, BBS4, MKKS and BBS10 was done by denaturing high-performance liquid chromatography. RESULTS: Out of 13 prevalent cases in the Faroe Islands, 10 patients from nine families were included. A novel splice site mutation in BBS1, c.1091+3G>C, was identified, and this was predicted to affect protein function by skipping 16 amino acids. Nine patients were homozygous for this mutation, while one patient was compound heterozygous with a recurrent BBS1 mutation, p.Met390Arg. The patients presented with severe ophthalmic phenotypes, while the systemic manifestations of the disease were apparently milder. CONCLUSION: A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. The phenotypic expression of the Faroese patients suggests that different mutations in BBS1 affect various organs differently.
Authors: Maleeha Maria; Ideke J C Lamers; Miriam Schmidts; Muhammad Ajmal; Sulman Jaffar; Ehsan Ullah; Bilal Mustafa; Shakeel Ahmad; Katia Nazmutdinova; Bethan Hoskins; Erwin van Wijk; Linda Koster-Kamphuis; Muhammad Imran Khan; Phil L Beales; Frans P M Cremers; Ronald Roepman; Maleeha Azam; Heleen H Arts; Raheel Qamar Journal: Sci Rep Date: 2016-10-06 Impact factor: 4.379
Authors: Muhammad Ajmal; Muhammad Imran Khan; Kornelia Neveling; Ali Tayyab; Sulman Jaffar; Ahmed Sadeque; Humaira Ayub; Nasir Mahmood Abbasi; Moeen Riaz; Shazia Micheal; Christian Gilissen; Syeda Hafiza Benish Ali; Maleeha Azam; Rob W J Collin; Frans P M Cremers; Raheel Qamar Journal: Mol Vis Date: 2013-03-21 Impact factor: 2.367