title: Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy.
abstract: Most patients with spinal muscular atrophy (SMA) have been reported to show homozygous deletion of the gene responsible for SMA, SMN1. However, whether SMA patients homozygous for the SMN1 deletion exist in Southeast Asian countries, including Vietnam, remains to be determined, because molecular genetic analyses of SMA patients from these countries have not been reported. In this preliminary study, we analyzed five Vietnamese SMA patients and found that SMN1 gene exons 7 and 8 were completely absent in one of them, a 6-month-old girl with hypotonic muscles. Thus, SMN1 deletion can be a cause of SMA in Vietnam, although other genetic abnormalities should be considered as etiological factors in many cases. In conclusion, we identified a homozygous deletion of the SMN1 gene in a Vietnamese SMA patient. Since the number of the patients analyzed in this study was very limited, it is too early to determine whether SMN1 deletion is not a main cause of SMA in Vietnam.
authors.affiliation: Division of Molecular Medicine, Department of International and Environmental Medical Sciences, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Tran Van
authors.initials: TV
authors.lastname: Khanh
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Takeshima
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Harada
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
authors.forename: Nguyen Thi Ngoc
authors.initials: NT
authors.lastname: Dao
authors.forename: Nguyen Thi
authors.initials: NT
authors.lastname: Hoan
authors.forename: Bui Phuong
authors.initials: BP
authors.lastname: Thao
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D001324:Autoantigens; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D007223:Infant; D008967:Molecular Biology; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D017411:Ribonucleoproteins, Small Nuclear / Q000235:genetics*; D012494:Sampling Studies; D014897:Spinal Muscular Atrophies of Childhood / Q000453:epidemiology / Q000235:genetics*; D014744:Vietnam / Q000453:epidemiology; D055517:snRNP Core Proteins
chemical_list: D001324:Autoantigens; D009419:Nerve Tissue Proteins; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins