Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

doi:10.3390/ijms22126410

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Article

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

International journal of molecular sciences - 15 Jun 2021

Smirnov Vasily, Grunewald Olivier, Muller Jean, Zeitz Christina, Obermaier Carolin D, Devos Aurore, Pelletier Valérie, Bocquet Béatrice, Andrieu Camille, Bacquet Jean-Louis, Lebredonchel Elodie, Mohand-Saïd Saddek, Defoort-Dhellemmes Sabine, Sahel José-Alain, Dollfus Hélène, Zanlonghi Xavier, Audo Isabelle, Meunier Isabelle, Boulanger-Scemama Elise, Dhaenens Claire-Marie

Abstract excerpt

Variants of the TTLL5 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 TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The...

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PMID: 34203883
DOI: 10.3390/ijms22126410
PMCID: PMC8232641

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