GGPS1-associated muscular dystrophy with and without hearing loss
2022 | journal article. A publication with affiliation to the University of Göttingen.
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GGPS1-associated muscular dystrophy with and without hearing loss
Kaiyrzhanov, R.; Perry, L.; Rocca, C.; Zaki, M. S.; Hosny, H.; Araujo Martins Moreno, C. & Phadke, R. et al. (2022)
Annals of Clinical and Translational Neurology, art. acn3.51633. DOI: https://doi.org/10.1002/acn3.51633
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Details
- Authors
- Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S.; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Maroofian, Reza
- Abstract
- Ultra-rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 (GGPS1) have recently been associated with muscular dystrophy/hearing loss/ ovarian insufficiency syndrome. Here, we describe 11 affected individuals from four unpublished families with ultra-rare missense variants in GGPS1 and provide follow-up details from a previously reported family. Our cohort replicated most of the previously described clinical features of GGPS1 deficiency; however, hearing loss was present in only 46% of the individuals. This report consolidates the disease-causing role of biallelic variants in GGPS1 and demonstrates that hearing loss and ovarian insufficiency might be a variable feature of the GGPS1-associated muscular dystrophy.
- Issue Date
- 2022
- Journal
- Annals of Clinical and Translational Neurology
- Project
- EXC 2067: Multiscale Bioimaging
- Organization
- Institut für Humangenetik ; Universitätsmedizin Göttingen
- Working Group
- RG Wollnik
- ISSN
- 2328-9503
- eISSN
- 2328-9503
- Language
- English