Mawaddah Ar Rochmah1, Ai Shima1,2, Nur Imma Fatimah Harahap1, Emma Tabe Eko Niba1, Naoya Morisada1,3, Shinichiro Yanagisawa4, Toshio Saito5, Kaori Kaneko6, Kayoko Saito6, Ichiro Morioka7, Kazumoto Iijima7, Poh San Lai8, Yoshihiro Bouike9, Hisahide Nishio1,7, Masakazu Shinohara1. 1. Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan. 2. Institute of Industrial Science, University of Tokyo, Tokyo, Japan. 3. Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan. 4. Faculty of Pharmaceutical Sciences, Himeji Dokkyo University, Himeji, Japan. 5. Division of Child Neurology, Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Japan. 6. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. 7. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. 8. Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. 9. Faculty of Nutrition, Kobe Gakuin University, Kobe, Japan.
Abstract
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender effects on the clinical phenotype are still controversial. METHODS: A total of 122 Japanese patients with SMA, of which SMN1 was homozygously deleted, were analyzed from the perspective of the achieved motor milestone, NAIP status and SMN2 copy number. RESULTS: A predominance of male patients was observed in SMA type 3 (the walker group) without NAIP-deletion or with high SMN2 copy number (3 or 4 copies). CONCLUSION: We suggest the presence of gender-related modifiers on disease severity in SMA patients. The modifiers may contribute only in the presence of NAIP and a high copy number of SMN2.
BACKGROUND:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender effects on the clinical phenotype are still controversial. METHODS: A total of 122 Japanese patients with SMA, of which SMN1 was homozygously deleted, were analyzed from the perspective of the achieved motor milestone, NAIP status and SMN2 copy number. RESULTS: A predominance of male patients was observed in SMA type 3 (the walker group) without NAIP-deletion or with high SMN2 copy number (3 or 4 copies). CONCLUSION: We suggest the presence of gender-related modifiers on disease severity in SMA patients. The modifiers may contribute only in the presence of NAIP and a high copy number of SMN2.
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