Alias L, Barcelo MJ, Bernal S, Martinez-Hernandez R, Also-Rallo E, Vazquez C, et al. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene. Clin Genet. 2014;85:470-5.
Muscle MRI of the pelvis (p), thighs (q), and legs (r) and muscle biopsy (s and t) of a 16 years old male patient with molecularly confirmed Spinal Muscular Atrophy with homozygous deletion of the exons 7 and 8 of the SMN1 gene, with the SMN2 gene presenting 4 copies of the ...
Eligible patients had to be younger than 6 months and have spinal muscular atrophy with biallelic SMN1 mutations (deletion or point mutations) and one or two copies of SMN2. Patients received a one-time intravenous infusion of onasemnogene abeparvovec (1·1×10 14 vector genomes per kg) ...
Mutations in the survival motor neuron gene ( SMN1 ) are determinant for the development of the disease whereas the number of copies of SMN2, the highly homologous copy of SMN1, plays a role as a phenotypic modifier factor. The detection of SMN1 homozygous deletions is the typical test for ...
Additionally, an unusually high frequency of alleles with multiple copies of SMN1 was identified in the African American group (27% compared to 3.3-8.1%). This latter finding has clinical implications for providing accurate adjusted genetic risk assessments to the African American population. ...
Interestingly, in three couples who had an SMA child, both the parents had two SMN1 copies. Families of this type have not been previously reported. Our results emphasize the importance of performing a detailed carrier study in SMA parents with two SMN1 copies. Expanding the analysis to other ...
Eligible patients had to be younger than 6 months and have spinal muscular atrophy with biallelic SMN1 mutations (deletion or point mutations) and one or two copies of SMN2. Patients received a one-time intravenous infusion of onasemnogene abeparvovec (1路1脳10 14 vector genomes per kg) ...
Results: SMA carrier testing was performed in 118/154 (76.6%) parents, incorporating 59 probands with homozygous SMN1 deletions and one proband with compound heterozygote pathogenic variants. Among parents with a child with SMA, 7.6% had two copies of SMN1 exon 7. When only prob...
Treatment initiation before disease onset holds promise for greater benefits.Design/Methods: Fourteen presymptomatic patients (biallelic SMN1 deletions, two SMN2 copies) were enrolled. Primary endpoint was independent sitting for ≥30 seconds (Bayley-III #26) by 18 months. Secondary endpoints were ...
Quantitative analysis of SMN1 and SMN2 was carried out by real-time fluorescence quantitative PCR and multiplex ligation-dependent probe amplification. Results Quantitative analysis showed that the father of family 1 possessed three copies of SMN2, and his daughter had only two SMN2 copies; the ...