Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Limb-girdle muscular dystrophies (LGMD) are muscle disorders with a genetic cause. TRAPCC11 is one of the many genes involved in LGMD, which leads to muscle weakness from early childhood, intellectual disability and elevated muscle enzymes in blood test, among other symptoms. In this study, we report 25 Roma individuals who share the same homozygous variant in TRAPPC11, and have novel clinical features, including microcephaly and clinical worsening triggered by infections. Our findings provide the largest sample of individuals with TRAPPC11-related LGMD reported so far and offer a comprehensive description of a specific variant in TRAPPC11 that appears to be founder in the Roma population. (By María Justel, https://jmg.bmj.com/content/early/2023/05/16/jmg-2022-109132 )

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