e-Article
GGPS1‐associated muscular dystrophy with and without hearing loss
Document Type
article
Author
Rauan Kaiyrzhanov; Luke Perry; Clarissa Rocca; Maha S. Zaki; Heba Hosny; Cristiane Araujo Martins Moreno; Rahul Phadke; Irina Zaharieva; Clara Camelo Gontijo; Christian Beetz; Veronica Pini; Mojtaba Movahedinia; Edmar Zanoteli; Stephanie DiTroia; Sandrine Vuillaumier‐Barrot; Arnaud Isapof; Mohammad Yahya Vahidi Mehrjardi; Nasrin Ghasemi; Anna Sarkozy; Francesco Muntoni; Sandra Whalen; Barbara Vona; Henry Houlden; Reza Maroofian
Source
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1465-1474 (2022)
Subject
Language
English
ISSN
2328-9503
Abstract
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 Here, we describe 11 affected individuals from four unpublished families with ultra‐rare missense variants in GGPS1 and provide follow‐up details from a previously reported family.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.