학술논문
GGPS1-associated muscular dystrophy with and without hearing loss.
Document Type
Article
Author
Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S.; Hosny, Heba; Martins Moreno, Cristiane Araujo; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier-Barrot, Sandrine; Isapof, Arnaud; Mehrjardi, Mohammad Yahya Vahidi; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco
Source
Subject
*MUSCULAR dystrophy
*HEARING disorders
*FACIOSCAPULOHUMERAL muscular dystrophy
*MISSENSE mutation
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Language
ISSN
2328-9503
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 Here, we describe 11 affected individuals from four unpublished families with ultra-rare missense variants in GGPS1 and provide follow-up details from a previously reported family.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. [ABSTRACT FROM AUTHOR]