Molecular genetic analyses of five Vietnamese patients with spinal muscular atrophy.
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.
Khanh
Tran Van
TV
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.
Takeshima
Yasuhiro
Y
Harada
Yosuke
Y
Nishio
Hisahide
H
Dao
Nguyen Thi Ngoc
NT
Hoan
Nguyen Thi
NT
Thao
Bui Phuong
BP
Matsuo
Masafumi
M
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
D001324:Autoantigens; D009419:Nerve Tissue Proteins; D017411:Ribonucleoproteins, Small Nuclear; D055517:snRNP Core Proteins