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Which are the causes of Wiedemann-Steiner Syndrome?
See some of the causes of Wiedemann-Steiner Syndrome according to people who have experience in Wiedemann-Steiner Syndrome
Wiedemann-Steiner syndrome results from mutations in the MLL (also known as KMT2A) gene on the long arm of chromosome 11. The gene encodes a histone-modification enzyme — that is, it helps modify the expression of other genes. The condition is autosomal dominant, meaning that only one abnormal copy of the gene is needed for a person to have the syndrome. In a majority of cases to date, the mutation occurred de novo — that is, neither parent was affected and the mutation is sporadic. Offspring of those with WSS have a 50% chance of having WSS.
The mechanism by which mutations in the MLL gene cause the phenotype of Wiedemann-Steiner syndrome is not yet known.
The mechanism by which mutations in the MLL gene cause the phenotype of Wiedemann-Steiner syndrome is not yet known.
Posted Jan 16, 2018 by anonymous 3980
