Information

SMC1A


SMC1A

SMC1A is responsible for producing and maintaining the core component of the cohesin complex ring. Changes in SMC1A have been found in approximately 5% of individuals with CdLS (3).

Many individuals with changes in SMC1A usually display a non-classic phenotype (3,15,16,24,29) and have fuller eyebrows, less shortening of the nasal bridge and a rounder face compared to individuals with changes in NIPBL.

40% of individuals with changes in SMC1A display a phenotype that resembles Rett Syndrome (another neurodevelopmental disorder associated with intellectual disability) more than CdLS (3,30,31).

The gene SMC1A is on the X chromosome. There are two copies of the X chromosome in all of the cells of females and only one in all of the cells of males. For the majority of genes, one of the X chromosomes in females is inactivated (turned off) to have the same balance as in males. However, some genes are not inactivated and that is the case for SMC1A (32). This means that males are typically more severely affected than females, as females have two copies of the gene, with one likely to not have a mutation (3,15). There has been a report of mosaicism for a variant in this gene in one person only (16).

Find andre sidder der deles de sammen emne som den side SMC1A3 SMC1A1
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

Sidehistorie
Senest ændret af Gerritjan Koekkoek den 2022/09/29 16:10
Oprettet af Gerritjan Koekkoek den 2019/03/27 15:09

Om indholdet af hjemmesiden

Alle oplysninger på dette websted er udelukkende til undervisningsformål. Det er din læge, der er det rette sted at få specifik medicinsk rådgivning, diagnoser og behandling. Brug af dette websted sker udelukkende på eget ansvar. Hvis du finder noget, som du mener, der skal rettes eller præciseres, bedes du give os besked på: 

Send en e-mail: info@cdlsWorld.org