BACKGROUND: To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. MATERIALS AND METHODS: Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. RESULTS: This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. The deletion is inherited from both parents and segregates with the disease phenotype in the family. The 5-bp deletion, c.301_305delGTCAT, p.Val101SerfsX27, is predicted to result in a frameshift and protein truncation after 27 amino acids. Sequencing all the coding regions of the CLRN1 gene in the proband did not reveal any other mutation or variant. CONCLUSION: Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.
BACKGROUND: To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. MATERIALS AND METHODS: Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. RESULTS: This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. The deletion is inherited from both parents and segregates with the disease phenotype in the family. The 5-bp deletion, c.301_305delGTCAT, p.Val101SerfsX27, is predicted to result in a frameshift and protein truncation after 27 amino acids. Sequencing all the coding regions of the CLRN1 gene in the proband did not reveal any other mutation or variant. CONCLUSION: Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.
Authors: Lama Jaffal; Hanane Akhdar; Hawraa Joumaa; Mariam Ibrahim; Zahraa Chhouri; Alexandre Assi; Charles Helou; Hane Lee; Go Hun Seo; Wissam H Joumaa; Said El Shamieh Journal: Front Genet Date: 2022-05-16 Impact factor: 4.772
Authors: Christine Neuhaus; Tobias Eisenberger; Christian Decker; Sandra Nagl; Cornelia Blank; Markus Pfister; Ingo Kennerknecht; Cornelie Müller-Hofstede; Peter Charbel Issa; Raoul Heller; Bodo Beck; Klaus Rüther; Diana Mitter; Klaus Rohrschneider; Ute Steinhauer; Heike M Korbmacher; Dagmar Huhle; Solaf M Elsayed; Hesham M Taha; Shahid M Baig; Heidi Stöhr; Markus Preising; Susanne Markus; Fabian Moeller; Birgit Lorenz; Kerstin Nagel-Wolfrum; Arif O Khan; Hanno J Bolz Journal: Mol Genet Genomic Med Date: 2017-07-06 Impact factor: 2.183
Authors: Gema García-García; María J Aparisi; Regina Rodrigo; María D Sequedo; Carmen Espinós; Jordi Rosell; José L Olea; M Paz Mendívil; María A Ramos-Arroyo; Carmen Ayuso; Teresa Jaijo; Elena Aller; José M Millán Journal: Mol Vis Date: 2012-12-29 Impact factor: 2.367
Authors: Ramesh Reddy; Somayyeh Fahiminiya; Elie El Zir; Ahmad Mansour; Andre Megarbane; Jacek Majewski; Rima Slim Journal: PLoS One Date: 2014-09-11 Impact factor: 3.240
Authors: Lama Jaffal; Wissam H Joumaa; Alexandre Assi; Charles Helou; George Cherfan; Kazem Zibara; Isabelle Audo; Christina Zeitz; Said El Shamieh Journal: Genes (Basel) Date: 2019-12-16 Impact factor: 4.096