Ontology highlight
ABSTRACT:
SUBMITTER: Smirnov V
PROVIDER: S-EPMC8232641 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Smirnov Vasily V Grunewald Olivier O Muller Jean J Zeitz Christina C Obermaier Carolin D CD Devos Aurore A Pelletier Valérie V Bocquet Béatrice B Andrieu Camille C Bacquet Jean-Louis JL Lebredonchel Elodie E Mohand-Saïd Saddek S Defoort-Dhellemmes Sabine S Sahel José-Alain JA Dollfus Hélène H Zanlonghi Xavier X Audo Isabelle I Meunier Isabelle I Boulanger-Scemama Elise E Dhaenens Claire-Marie CM
International journal of molecular sciences 20210615 12
Variants of the <i>TTLL5</i> gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few <i>TTLL5</i> patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of <i>TTLL5.</i> Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal d ...[more]