Article
A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2025
Bratman Morag Sharon, Itzkovich Chen, Kurolap Alina, Shohat Mordechai, Durr Alexandra, de Sainte Agathe Jean-Madeleine, Bertrand Jeremy, Koifman Arie, Alkelai Anna, Shuldiner Alan R, Mory Adi, Harel Tamar, Mor-Shaked Hagar, Shalata Adel, Paperna Tamar, Baris Feldman Hagit, Kakun Reli R, Kornitzer Daniel, Salzberg Adi, Weiss Karin
Abstract excerpt
PURPOSE: Hereditary spastic paraparesis (HSP) is a genetically diverse group of Mendelian disorders characterized by length-dependent axonal degeneration. Microtubule dysfunction is a known mechanism in HSP that impairs axonal dynamics. TBCB encodes tubulin-folding cofactor B (TBCB), which, along with TBCE, regulates αβ-heterodimer dynamics and neuronal axonal growth. Here, we describe a new form of complicated...
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- Humans
- Animals
- Developmental Disabilities
- Drosophila melanogaster