Annals of Clinical and Translational Neurology (Sep 2022)
GGPS1‐associated muscular dystrophy with and without hearing loss
- 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
Affiliations
- Rauan Kaiyrzhanov
- Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London WC1N 3BG UK
- Luke Perry
- The Dubowitz Neuromuscular Centre University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital London UK
- Clarissa Rocca
- Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London WC1N 3BG UK
- Maha S. Zaki
- Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre 12622 Cairo Egypt
- Heba Hosny
- National Institute of Neuromotor System Cairo Egypt
- Cristiane Araujo Martins Moreno
- Department of Neurology School of Medicine of Universidade de Sao Paulo Sao Paulo Brazil
- Rahul Phadke
- The Dubowitz Neuromuscular Centre University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital London UK
- Irina Zaharieva
- The Dubowitz Neuromuscular Centre University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital London UK
- Clara Camelo Gontijo
- Department of Neurology School of Medicine of Universidade de Sao Paulo Sao Paulo Brazil
- Christian Beetz
- Diagnostic Department Centogene GmbH 18055 Rostock Germany
- Veronica Pini
- The Dubowitz Neuromuscular Centre University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital London UK
- Mojtaba Movahedinia
- Children Growth Disorder Research Center Shahid Sadoughi University of Medical Sciences Yazd Iran
- Edmar Zanoteli
- Department of Neurology School of Medicine of Universidade de Sao Paulo Sao Paulo Brazil
- Stephanie DiTroia
- Program in Medical and Population Genetics and Center for Mendelian Genomics Broad Institute of MIT and Harvard Cambridge Massachusetts USA
- Sandrine Vuillaumier‐Barrot
- Service de Biochimie et génétique, APHP Hôpital Bichat‐Claude Bernard 75018 Paris France
- Arnaud Isapof
- Service de neuropédiatrie APHP, Sorbonne Université, Hôpital Armand Trousseau 75012 Paris France
- Mohammad Yahya Vahidi Mehrjardi
- Medical Genetics Research Center Shahid Sadoughi University of Medical Sciences Yazd Iran
- Nasrin Ghasemi
- Abortion Research Centre Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences 8916978477 Yazd Iran
- Anna Sarkozy
- The Dubowitz Neuromuscular Centre University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital London UK
- Francesco Muntoni
- The Dubowitz Neuromuscular Centre University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital London UK
- Sandra Whalen
- UF de Génétique Clinique Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, AP‐HP. Sorbonne Université, Hôpital Armand Trousseau 75012 Paris France
- Barbara Vona
- Institute of Human Genetics University Medical Center Göttingen Göttingen Germany
- Henry Houlden
- Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London WC1N 3BG UK
- Reza Maroofian
- Department of Neuromuscular Disorders UCL Queen Square Institute of Neurology London WC1N 3BG UK
- DOI
- https://doi.org/10.1002/acn3.51633
- Journal volume & issue
-
Vol. 9,
no. 9
pp. 1465 – 1474
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.
