Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

Autor: Steven B. Blanchard, Cécile Méjécase, Thierry Léveillard, Sandra Chantot-Bastaraud, Marion Neuillé, Christelle Michiels, Saddek Mohand-Said, Elise Orhan, Christina Zeitz, Juliette Wohlschlegel, Frédéric Blond, Audrey Schalk, Sébastien Augustin, Christel Condroyer, Amrit Estivalet, Lisa Emmenegger, Aline Antonio, Vanessa Démontant, Crystel Bonnet, José-Alain Sahel, Camille Andrieu, Isabelle Audo, Marine Foussard

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 15
International Journal of Molecular Sciences, 2021, 22 (15), pp.7875. ⟨10.3390/ijms22157875⟩
International Journal of Molecular Sciences, Vol 22, Iss 7875, p 7875 (2021)

The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated in inherited retinal disorders (IRD), and provide transcriptomic and immunoloca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc75b819a0ffb296b4db901df214bc6d

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

Autor: Camille Andrieu, Saddek Mohand-Said, Fiona Boyard, Mélanie Letexier, Aline Antonio, Christina Zeitz, Said El Shamieh, Christel Condroyer, Aurélie Hummel, José-Alain Sahel, Isabelle Audo, Cécile Méjécase, Marine Foussard, Jean-Paul Saraiva, Steven B. Blanchard

Publikováno v: Clinical genetics. 95(2)

Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod-cone dystrophy (RCD), the youngest with early-onset cone-rod dystrophy and the two youngest with nephrotic-range proteinuria. Targe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2d11ffb37503515637f8abeeaccad5
https://pubmed.ncbi.nlm.nih.gov/30267408

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Autor: Marco Nassisi, Christina Zeitz, Claire-Marie Dhaenens, José-Alain Sahel, Christel Condroyer, Isabelle Audo, Vanessa Démontant, Marine Foussard, Saddek Mohand-Said, Fiona Boyard, Chiara M. Eandi, Aline Antonio, Cécile Méjécase, Camille Andrieu

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2018, 19 (8), pp.2196. ⟨10.3390/ijms19082196⟩
International Journal of Molecular Sciences, Vol 19, Iss 8, p 2196 (2018)
International Journal of Molecular Sciences; Volume 19; Issue 8; Pages: 2196
International Journal of Molecular Sciences, 2018, 19 (8), pp.2196. ⟨10.3390/ijms19082196⟩

International audience; Here we report novel mutations in ABCA4 with the underlying phenotype in a large French cohort with autosomal recessive Stargardt disease. The DNA samples of 397 index subjects were analyzed in exons and flanking intronic regi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a5448c92e01db3f1396e263fbee611
https://hal.sorbonne-universite.fr/hal-01884681/document