The two major Mennonite haplotypes identified (M1a, M2) included 1 and 2 copies of SMN2 respectively, and the single Amish SMA haplotype (A1) had 1 copy of SMN2. M1a/M1a, M1a/M2, and M2/M2 were ...

SMN2 and SERF1A have a joint modifying effect on childhood-onset SMA phenotype. Spinal muscular atrophy (SMA) is caused by functional loss of the survival of motor neuron 1 (SMN1) gene.

Purpose: This study describes SMN1 deletion frequency, carrier studies, and the effect of the modifying SMN2 gene on the spinal muscular atrophy (SMA) phenotype. A novel allele-specific intragenic ...

SMN2 copy number can carry great implications for patients with SMA. The majority of SMA cases result in the absence or loss of SMN1 , leaving patients and their motor neurons to relying on SMN2 .

"Full-length SMN2 was still produced in peripheral tissues, but there was no increase in SMN2 made in the CNS, where we expected it to be important." But the results were striking and unanticipated.

Chen X, harting J, Farrow E, et al. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. Am J Hum Gen . 2023;110(2):240-250. doi:10. ...

“Our laboratory has many years of experience testing various methodologies for the quantification of SMN1 and SMN2, but the [AmplideX SMA Plus Kit] has now set the bar for speed and simplicity ...

In about 90% of cases the researchers tested, the super minigene expressed the same results as the whole SMN2 gene, Singh said. “We would have been happy with 50%. That was a big achievement ...