Advanced search
Publication Cover
Ophthalmic Genetics Volume 23, 2002 - Issue 4
Submit an article Journal homepage
61
Views
20
CrossRef citations to date
0
Altmetric
Research Article

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

Sylvie Gerber Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Isabelle Perrault Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Sylvain Hanein Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Stavit Shalev Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Joel Zlotogora Department of Community Genetics, Public Health Services, Ministry of Health, Sheba Medical Center, Ramat Gan, Israel
,
Fabienne Barbet Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Dominique Ducroq Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Jean-Louis Dufier Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Arnold Munnich Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
,
Jean-Michel Rozet Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
&
Josseline Kaplan Unite de Recherches sur les Handicaps Genetiques de l'Enfant and Service d'Ophtalmologie, Hopital Necker-Enfants Malades, Paris, France Genetic Unit, Haemek Medical Center, Afula
 show all
Pages 225-235 | Published online: 08 Jul 2009

Citations (20)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (2)

Monika K. Grudzinska Pechhacker, Matteo Di Scipio, Anjali Vig, Anupreet Tumber, Nicole Roslin, Erika Tavares, Ajoy Vincent & Elise Hèon. (2020) CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. Ophthalmic Genetics 41:5, pages 457-464.
Read now
H. Abouzeid, Y. Li, I. H. Maumenee, S. Dharmaraj & O. Sundin. (2006) A G1103R Mutation in CRB1 is Co-Inherited with High Hyperopia and Leber Congenital Amaurosis. Ophthalmic Genetics 27:1, pages 15-20.
Read now

Articles from other publishers (18)

Mor Hanany & Dror Sharon. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 233 248 .
Sharola Dharmaraj, Anshuman Verma, P. Sundaresan & Chitra Kannabiran. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 191 231 .
Michelle Lajko, Herminio J. Cardona, Joann M. Taylor, Kathryn N. Farrow & Amani A. Fawzi. (2017) Photoreceptor oxidative stress in hyperoxia-induced proliferative retinopathy accelerates rd8 degeneration. PLOS ONE 12:7, pages e0180384.
Crossref
Shiqiang Li, Tao Shen, Xueshan Xiao, Xiangming Guo & Qingjiong Zhang. (2014) Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening. International Journal of Molecular Medicine.
Crossref
Bart P. Leroy. 2014. Inherited Chorioretinal Dystrophies. Inherited Chorioretinal Dystrophies 121 133 .
Kinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi S. Bhattacharya & Christina Zeitz. (2012) CRB1 mutations in inherited retinal dystrophies . Human Mutation 33:2, pages 306-315.
Crossref
Jonathan Bibliowicz, Rachel K. Tittle & Jeffrey M. Gross. 2011. Animal Models of Human Disease. Animal Models of Human Disease 287 330 .
Ya-Chu Hsu & Abbie M Jensen. (2010) Multiple domains in the Crumbs Homolog 2a (Crb2a) protein are required for regulating rod photoreceptor size. BMC Cell Biology 11:1.
Crossref
Liat Benayoun, Ronen Spiegel, Noa Auslender, Anan H Abbasi, Leah Rizel, Yasir Hujeirat, Ihsan Salama, Hanna J. Garzozi, Stavit Allon‐Shalev & Tamar Ben‐Yosef. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping. American Journal of Medical Genetics Part A 149A:4, pages 650-656.
Crossref
Arne K Christensen & Abbie M Jensen. (2008) Tissue-specific requirements for specific domains in the FERM protein Moe/Epb4.1l5 during early zebrafish development. BMC Developmental Biology 8:1.
Crossref
Sylvain Hanein, Alexandra Dürr, Pascale Ribai, Sylvie Forlani, Anne-Louise Leutenegger, Isabelle Nelson, Marie-Claude Babron, Nizar Elleuch, Christel Depienne, Céline Charon, Alexis Brice & Giovanni Stevanin. (2007) A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Human Genetics 122:3-4, pages 261-273.
Crossref
Ya-Chu HsuJohn J. WilloughbyArne K. ChristensenAbbie M. Jensen. (2006) Mosaic Eyes is a novel component of the Crumbs complex and negatively regulates photoreceptor apical size. Development 133:24, pages 4849-4859.
Crossref
S. Hanein, I. Perrault, S. Gerber, G. Tanguy, C. Hamel, J.-L. Dufier, J.-M. Rozet & J. Kaplan. (2005) Amaurose congénitale de Leber : le point sur l’hétérogénéité génétique, actualisation de la définition clinique. Journal Français d'Ophtalmologie 28:1, pages 98-105.
Crossref
Anneke I. den Hollander, Jason Davis, Saskia D. van der Velde-Visser, Marijke N. Zonneveld, Chiara O. Pierrottet, Robert K. Koenekoop, Ulrich Kellner, L. Ingeborgh van den Born, John R. Heckenlively, Carel B. Hoyng, Penny A. Handford, Ronald Roepman & Frans P.M. Cremers. (2004) CRB1 mutation spectrum in inherited retinal dystrophies. Human Mutation 24:5, pages 355-369.
Crossref
Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique Ducroq, Helene Dollfus, Christian Hamel, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan & Jean-Michel Rozet. (2004) Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis. The American Journal of Human Genetics 75:4, pages 639-646.
Crossref
S. Bonnel, S. Mohand-Said, P.O. Barale, R. De Nicola & J.-A. Sahel. (2004) Pathologies rétiniennes d’origine héréditaire et DMLA : nouvelles perspectives thérapeutiques. Journal Français d'Ophtalmologie 27:6, pages 623-633.
Crossref
Abbie M Jensen & Monte Westerfield. (2004) Zebrafish Mosaic Eyes Is a Novel FERM Protein Required for Retinal Lamination and Retinal Pigmented Epithelial Tight Junction Formation. Current Biology 14:8, pages 711-717.
Crossref
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Lopponen, Francis Munier, Louisa Santos, Stavit Shalev, Dimitrios Zafeiriou, Jean-Louis Dufier, Arnold Munnich, Jean-Michel Rozet & Josseline Kaplan. (2004) Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Human Mutation 23:4, pages 306-317.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.