GGPS1-associated muscular dystrophy with and without hearing loss.
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ABSTRACT:
SUBMITTER: Kaiyrzhanov R
PROVIDER: S-EPMC9463955 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
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GGPS1-associated muscular dystrophy with and without hearing loss.
Kaiyrzhanov Rauan R Perry Luke L Rocca Clarissa C Zaki Maha S MS Hosny Heba H Araujo Martins Moreno Cristiane C Phadke Rahul R Zaharieva Irina I Camelo Gontijo Clara C Beetz Christian C Pini Veronica V Movahedinia Mojtaba M Zanoteli Edmar E DiTroia Stephanie S Vuillaumier-Barrot Sandrine S Isapof Arnaud A Mehrjardi Mohammad Yahya Vahidi MYV Ghasemi Nasrin N Sarkozy Anna A Muntoni Francesco F Whalen Sandra S Vona Barbara B Houlden Henry H Maroofian Reza R
Annals of clinical and translational neurology 20220723 9
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 Here, we describe 11 affected individuals from four unpublished families with ultra-rare missense variants in GGPS1 and provide follow-up details from a previously reported family.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 ...[more]
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