PMID: 32644125 - Hensel et al 2020 - 42 SMA children (not genotyped) compared to age-matched controls had signficantly smaller anterior height (cranio-caudal extent) as well as the depth of the upper endplate. Bone mineral density were significantly lower in SMA children compared to age-matched healthy controls. This growth defect but not the mineralization defect was evident in pre-symptomatic SMA mice.
PMID: 32644120 - Motyl et al 2020 - mouse model of Spinal muscular atrophy shows that presymptomatic SMA embryos were significantly smaller than littermate controls, indicative of general developmental delay. In particular, cardiac ventricles were smaller in SMA hearts, but not liver and brain. Significant molecular perturbations in proteomic profiles were observed in all organs examined, highlighting tissue-specific prenatal molecular phenotypes in SMA.
Created: 6 Oct 2020, 10:56 a.m. | Last Modified: 6 Oct 2020, 10:56 a.m.
Panel Version: 3.13
Spinal muscular atrophy
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Publications for gene: SMN1 were set to 27911332; 10700538; 11826188; 8787675
Phenotypes for gene: SMN1 were changed from arthrogryposis; SMA 0 to arthrogryposis; SMA 0; Spinal muscular atrophy-1, 253300; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150
Publications for gene: SMN1 were set to 27911332; 10700538; 11826188
gene: SMN1 was added gene: SMN1 was added to Arthrogryposis. Sources: Literature,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMN1 were set to 27911332; 10700538; 11826188 Phenotypes for gene: SMN1 were set to arthrogryposis; SMA 0