Article
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.
Clinical genetics - 1 Jun 2025
Essid Miriam, Karoui Sana, Zribi Mouna, Ben Younes Thouraya, Januel Louis, Lafont Estelle, Labalme Audrey, Ben Hafsa Meriem, Hun Seo Go, Khatrouch Safa, Boudabous Hela, Ben Chehida Amel, Sanlaville Damien, Jilani Houweyda, Benjemaa Lamia, Kraoua Ichraf, Lesca Gaetan, Chatron Nicolas
Abstract excerpt
Kohlschütter-Tönz Syndrome (KTS) is an ultra-rare autosomal recessive disorder, characterized by a clinical triad: infantile-onset epilepsy, global developmental delay, and amelogenesis imperfecta. KTS is caused by pathogenic variants in ROGDI, encoding a leucine zipper protein of unknown function. Our study characterizes a novel homozygous ROGDI variant (NM_024589.3:c.646-2A>G) identified in a Tunisian family...
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