FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients |
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| Institution: | 1. Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan;2. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan;3. Shimizu Children’s Clinic, 3-152 Komaki, Komaki, Aichi 485-0041, Japan;4. Division of Neurology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo, Kobe, Hyogo 650-0017, Japan;5. Department of Pediatrics, Juntendo University, Nerima Hospital, 3-1-10 Takanodai, Nerima, Tokyo 177-8521, Japan;6. Research Center for Locomotion Biology, Kobe Gakuin Univesity, 518 Arise, Ikawadani-cho, Nishi, Kobe, Hyogo 651-2180, Japan;7. Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori 683-8504, Japan;8. Ibaraki Children’s Hospital, 3-3-1 Futabadai, Mito, Ibaraki 311-4145, Japan;9. Department of Pediatrics, National Hospital Organization Ehime Medical Center, 366 Yokogawara, Toon, Ehime 791-0281, Japan;10. Department of Neurology, Faculty of Medicine, Oita University, 1-1 Hasamamachi-idaigaoka, Yufu, Oita 879-5593, Japan;11. Department of Clinical Genetics, Tottori University Hospital, 36-1 Nishi-cho, Yonago, Tottori 683-8504, Japan;12. Translational Medical Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-Higashi-cho, Kodaira, Tokyo 187-8502, Japan;1. Neurology Department, Vall d’Hebron Universitary Hospital, Barcelona, Spain;2. Cooper Medical School of Rowan University, Camden, USA;1. Department of Biotechnological and Applied Clinical Science, University of L’Aquila AQ, Via Vetoio 1 AQ, 67100, Italy;2. Neurology Unit, San Salvatore Hospital, L''Aquila, Italy;3. Department of Life, Health and Environmental Sciences, University of L’Aquila, Italy;4. Department of Neurosurgery, University of L’Aquila AQ, Via Vetoio 1 AQ, 67100, Italy;1. Department of Neurology, AIIMS, Rishikesh, Uttarakhand, India;2. Ex-HOD, Department of Neurology, Sanjay Gandhi PGIMS, Lucknow 226014, Uttar Pradesh, India;3. Apollo Medics Super-specialty Hospitals and Senior Consultant Neurologist, Vivekanand Polyclinic, and Institute of Medical Science, Lucknow 22600, India;1. Department of Orthopaedic Surgery, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan;2. Department of Orthopaedic Surgery and Sports Medicine, Tsukuba University Hospital Mito Clinical Education and Training Center/ Mito Kyodo General Hospital, Mito, Japan |
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| Abstract: | Mutation in the fukutin-related protein (FKRP) gene causes alpha-dystroglycanopathies, a group of autosomal recessive disorders associated with defective glycosylated alpha-dystroglycan (α-DG). The disease phenotype shows a broad spectrum, from the most severe congenital form involving brain and eye anomalies to milder limb-girdle form. FKRP-related alpha-dystroglycanopathies are common in European countries. However, a limited number of patients have been reported in Asian countries. Here, we presented the clinical, pathological, and genetic findings of nine patients with FKRP mutations identified at a single muscle repository center in Japan. Three and six patients were diagnosed with congenital muscular dystrophy type 1C and limb-girdle muscular dystrophy 2I, respectively. None of our Asian patients showed the most severe form of alpha-dystroglycanopathy. While all patients showed a reduction in glycosylated α-DG levels, to variable degrees, these levels did not correlate to clinical severity. Fifteen distinct pathogenic mutations were identified in our cohort, including five novel mutations. Unlike in the populations belonging to European countries, no common mutation was found in our cohort. |
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| Keywords: | Fukutin-related protein Alpha-dystroglycanopathies Congenital muscular dystrophy type 1C Limb-girdle muscular dystrophy 2I |
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