Article
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.
Human genomics - 28 Feb 2025
Shalata Adel, Saada Ann, Mahroum Mohammed, Hadid Yarin, Furman Chaya, Shalata Zaher Eldin, Desnick Robert J, Lorber Avraham, Khoury Asaad, Higazi Adnan, Shaag Avraham, Barash Varda, Spiegel Ronen, Vlodavsky Euvgeni, Rustin Pierre, Pietrokovski Shmuel, Manov Irena, Gieger Dan, Tal Galit, Salzberg Adi, Mandel Hanna
Abstract excerpt
PURPOSE: Sengers-syndrome (S.S) is a genetic disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. All reported cases were genetically caused by biallelic mutations in the AGK gene. We herein report a pathogenic variant in TIMM29 gene, encoding Tim29 protein, as a novel cause of S.S. Notably, AGK and Tim29 proteins are components of the TIM22 complex,...
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