BACKGROUND/AIM: Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity. RP1 is one of the earliest identified disease genes in RP with mutations in this gene known to act both recessively and dominantly although the mutational mechanism remains unclear. This study is part of our ongoing effort to characterise RP in Saudi Arabia at the molecular level. METHODS: Homozygosity mapping and candidate gene analysis. RESULTS: The authors have identified four novel mutations, all recessive, in a number of families with a typical RP phenotype. CONCLUSION: The distribution of these novel and previously reported RP1 mutations makes it challenging to describe a unifying mutational mechanism for dominant versus recessive RP1-related RP.
BACKGROUND/AIM: Retinitis pigmentosa (RP) is the commonest form of retinal dystrophy and is usually inherited as a monogenic trait but with remarkable genetic heterogeneity. RP1 is one of the earliest identified disease genes in RP with mutations in this gene known to act both recessively and dominantly although the mutational mechanism remains unclear. This study is part of our ongoing effort to characterise RP in Saudi Arabia at the molecular level. METHODS: Homozygosity mapping and candidate gene analysis. RESULTS: The authors have identified four novel mutations, all recessive, in a number of families with a typical RP phenotype. CONCLUSION: The distribution of these novel and previously reported RP1 mutations makes it challenging to describe a unifying mutational mechanism for dominant versus recessive RP1-related RP.
Authors: Firoz Kabir; Inayat Ullah; Shahbaz Ali; Alexander D H Gottsch; Muhammad Asif Naeem; Muhammad Zaman Assir; Shaheen N Khan; Javed Akram; Sheikh Riazuddin; Radha Ayyagari; J Fielding Hejtmancik; S Amer Riazuddin Journal: Mol Vis Date: 2016-06-10 Impact factor: 2.367
Authors: Anna M Siemiatkowska; Galuh D N Astuti; Kentar Arimadyo; Anneke I den Hollander; Sultana M H Faradz; Frans P M Cremers; Rob W J Collin Journal: Mol Vis Date: 2012-10-03 Impact factor: 2.367
Authors: Leen Abu-Safieh; May Alrashed; Shamsa Anazi; Hisham Alkuraya; Arif O Khan; Mohammed Al-Owain; Jawahir Al-Zahrani; Lama Al-Abdi; Mais Hashem; Salwa Al-Tarimi; Mohammed-Adeeb Sebai; Ahmed Shamia; Mohamed D Ray-Zack; Malik Nassan; Zuhair N Al-Hassnan; Zuhair Rahbeeni; Saad Waheeb; Abdullah Alkharashi; Emad Abboud; Selwa A F Al-Hazzaa; Fowzan S Alkuraya Journal: Genome Res Date: 2012-10-26 Impact factor: 9.043
Authors: Marta Corton; Koji M Nishiguchi; Almudena Avila-Fernández; Konstantinos Nikopoulos; Rosa Riveiro-Alvarez; Sorina D Tatu; Carmen Ayuso; Carlo Rivolta Journal: PLoS One Date: 2013-06-14 Impact factor: 3.240