Identification of GGC repeat expansions in ZFHX3 among Chilean movement disorder patients

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Saffie-Awad et al. identified the first ZFHX3 GGC repeat expansions associated with spinocerebellar ataxia type 4 (SCA4) in Latin America. Their findings link longer repeats to earlier onset, demonstrate repeat instability and epigenetic changes, and illustrate the potential of Oxford Nanopore sequencing for future use in hereditary ataxia research and screening.

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Sample type: human blood

Kit: Ligation Sequencing Kit

Authors: Paula Saffie-Awad, Abraham Moller, Kensuke Daida, Pilar Alvarez Jerez, Zhongbo Chen, Zachary B. Anderson, Mariam Isayan, Kimberly Paquette, Sophia B. Gibson, Madison Fulcher, Abigail Miano-Burkhardt, Laksh Malik, Breeana Baker, Paige Jarreau, Henry Houlden, Mina Ryten, Bida Gu, Mark J.P. Chaisson, Danny E. Miller, Pedro Chaná-Cuevas, Cornelis Blauwendraat, Andrew B. Singleton, Kimberley J. Billingsley
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PubMed
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  • Published on: June 3 2025
  • Source: Movement Disorders