West-Central African Ancestry of the Repeat-Expansion Founder Mutation on the JPH3 Gene in Mexican Patients With Huntington's Disease-Like 2
Ancestry analysis suggests that the JPH3 repeat expansion identified in our patients is a founder mutation of African origin. Other founder mutations causing rare genetic diseases in Mexico show how the admixture process in Latin America has contributed to the high prevalence of disease in certain geographical regions.
Authors
- Miguel Ángel Ramírez-García (ORCID: https://orcid.org/0000-0003-3221-3636)
- Petra Yescas (ORCID: https://orcid.org/0000-0003-1010-9547)
- Karina Díaz-Barba (ORCID: https://orcid.org/0009-0003-4666-9447)
- Sandra Romero‐Hidalgo (ORCID: https://orcid.org/0000-0003-3077-7825)
- Gabriela Castañeda-López
- Luis Macías‐Kauffer (ORCID: https://orcid.org/0000-0002-3080-2835)
- Teresa Villarreal‐Molina (ORCID: https://orcid.org/0000-0003-4450-7690)
- Julio César Misael Monroy-González
Institutions
- National Institute of Genomic Medicine (MX)
- Instituto Nacional de Neurología y Neurocirugía (MX)
Publication Details
- Journal
- Archives of Medical Research
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1016/j.arcmed.2025.103208
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.91
Funders
- Consejo Nacional de Ciencia y Tecnología
- Universidad Nacional Autónoma de México