Results 111 to 120 of about 2,008 (179)

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family

Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
Alström syndrome is a very rare genetic disorder that needs a high suspicion index in any patient with cardiomyopathy, obesity, and diminution of vision and hearing. Molecular genetic testing of the ALMS1 gene uncovered a novel homozygous mutation (c.2729C>G) in an extended Saudi Family.
Salma A. S. Abosabie, Sara A. Abosabie, Jaber Alfaifi, Youssef A. Alqahtani, Ayed A. Shati, Najmah A. Alotaibi, Ohoud A. Alghamdi, Ghadi N. Alotaibi, Abdulrahman A. Baabdullah, Lama K. Kabrah, Naglaa M. Kamal, Mohammed A. M. Oshi, Enas A. A. Abdallah   +12 more
wiley   +1 more source

A missense mutation inGUCY2Dacts as a genetic modifier inRPE65-related Leber Congenital Amaurosis

Ophthalmic Genetics, 2004
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous severe retinal dystrophy presenting in infancy. To explain the phenotypical variability observed in two affected siblings of a consanguineous pedigree diagnosed with LCA and establish a genotype-phenotype correlation, we screened GUCY2D, RPE65, CRX, AIPL1, and RPGRIP1 for ...
Silva, E., Dharmaraj, S., Li, Y.Y., Pina, A.L., Carter, R.C., Loyer, M., Traboulsi, E., Theodossiadis, G., Koenekoop, R.K., Sundin, O.H., Maumenee, I.H.   +10 more
openaire   +3 more sources

Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy

Ophthalmic Genetics, 2020
The GUCY2D gene encodes the photoreceptor guanylate cyclase (GC-E) and different pathogenic variants can lead to Leber congenital amaurosis (LCA) or cone-rod dystrophy (CRD). In this study, we describe three unrelated families who carried different mutations at codon 838 of the GUCY2D gene, and presented different phenotypes of retinal degeneration ...
Zixi, Sun, Shijing, Wu, Tian, Zhu, Hui, Li, Xing, Wei, Hong, Du, Ruifang, Sui   +6 more
openaire   +2 more sources

An ancient founder mutation in PROKR2 impairs human reproduction [PDF]

, 2017
Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private ...
Abreu, Ana Paula, Au, Margaret G., Avbelj Stefanija, Magdalena, Balasubramanian, Ravikumar, Cheetham, Timothy, Crowley, William F., Dode, Catherine, Dwyer, Andrew A., Florez, Jose C., Gusella, James F., Jacobson-Dickman, Elka E., Jeanpierre, Marc, Latronico, Ana Claudia, Pearce, Simon H., Pitteloud, Nelly, Plummer, Lacey, Pugeat, Michel, Purushothaman, Radhika, Quinton, Richard, Schinzel, Albert, Sykiotis, Gerasimos P., Ten, Svetlana, Young, Jacques   +22 more
core  

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies [PDF]

, 2019
Purpose To describe the natural history of Leber congenital Amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in preparation for trials of novel therapies.
Arno, G, Bouzia, Z, Fiorentino, A, Fujinami, K, Georgiou, M, Hardcastle, AJ, Hull, S, Michaelides, M, Pontikos, N, Robson, AG, Rotsos, T, Webster, AR   +11 more
core   +2 more sources

Comparaison des coûts du diagnostic moléculaire des rétinites pigmentaires entre le séquençage selon Sanger et un séquençage à haut débit [PDF]

, 2012
La rétinite pigmentaire (RP) et l'amaurose congénitale de Leber (LCA) sont deux maladies héréditaires classées dans le groupe des rétinopathies pigmentaires. Plus de 100 gènes ou loci ont étés identifiés dans les RP (comptant pour 60% des patients) et 14
Bernasconi, M.
core  

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]

, 2016
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel, NIHR BioResource, Richardson, Sylvia, Turro, Ernest   +3 more
core   +3 more sources

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

PLoS ONE, 2013
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children.
Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet   +34 more
doaj   +1 more source

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

Investigative Opthalmology & Visual Science, 2017
To examine how severe congenital blindness resulting from mutations of the GUCY2D gene alters brain structure and function, and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA).Six GUCY2D-LCA patients (ages 20-46) were studied with optical coherence tomography of the retina ...
Aguirre, Geoffrey K., Butt, Omar H., Datta, Ritobrato, Roman, Alejandro J., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.   +7 more
openaire   +2 more sources

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

PLoS ONE, 2014
Most diagnostic laboratories are confronted with the increasing demand for molecular diagnosis from patients and families and the ever-increasing genetic heterogeneity of visual disorders.
Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte   +6 more
doaj   +1 more source