Kaiyrzhanov, Rauan;
Perry, Luke;
Rocca, Clarissa;
Zaki, Maha S;
Hosny, Heba;
Araujo Martins Moreno, Cristiane;
Phadke, Rahul;
... Maroofian, Reza; + view all
(2022)
GGPS1-associated muscular dystrophy with and without hearing loss.
Annals of Clinical and Translational Neurology
10.1002/acn3.51633.
(In press).
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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 Here, we describe 11 affected individuals from four unpublished families with ultra-rare missense variants in GGPS1 and provide follow-up details from a previously reported family.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.
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