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A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance |
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| Authors: | Yoshinori Tsurusaki Shinji Saitoh Kazuhiro Tomizawa Akira Sudo Naoko Asahina Hideaki Shiraishi Jun-ichi Ito Hajime Tanaka Hiroshi Doi Hirotomo Saitsu Noriko Miyake Naomichi Matsumoto |
| Affiliation: | 1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan 2. Department of Pediatrics and Neonatology, Graduate School of Medical Sciences, Nagoya City University, Kawasumi-1, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan 3. Department of Pediatrics, Nakashibetsu Town Hospital, Nakashibetsu, Japan 4. Department of Pediatrics, Sapporo City General Hospital, Sapporo, Japan 5. Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan 6. Department of Pediatrics, Taiyo no Sono, Date, Japan 7. Department of Pediatrics, Asahikawa Habilitation Center for Disabled Children, Asahikawa, Japan |
| Abstract: | Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 mutation [p.H306R (c.917A>G)]. The identical mutation was recently reported in a pedigree with the axonal form of Charcot–Marie–Tooth disease. Three other missense mutations in DYNC1H1 were also identified in families with dominant spinal muscular atrophy with lower extremity predominance. Their clinical features were consistent with those of our family. Our study has demonstrated that the same DYNC1H1 mutation could cause spinal muscular atrophy as well as distal neuropathy, indicating pleotropic effects of the mutation. |
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