title: A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
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.
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura, Kanazawa-ku, Yokohama, Japan.
authors: Yoshinori
authors: Y
authors: Tsurusaki
authors: Shinji
authors: S
authors: Saitoh
authors: Kazuhiro
authors: K
authors: Tomizawa
authors: Akira
authors: A
authors: Sudo
authors: Naoko
authors: N
authors: Asahina
authors: Hideaki
authors: H
authors: Shiraishi
authors: Jun-Ichi
authors: J
authors: Ito
authors: Hajime
authors: H
authors: Tanaka
authors: Hiroshi
authors: H
authors: Doi
authors: Hirotomo
authors: H
authors: Saitsu
authors: Noriko
authors: N
authors: Miyake
authors: Naomichi
authors: N
authors: Matsumoto
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D056445:Cytoplasmic Dyneins / Q000235:genetics*; D059472:Exome; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
chemical_list: C511240:DYNC1H1 protein, human; D056445:Cytoplasmic Dyneins