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X inactivation, familial skewed, 1(SXI1)

MedGen UID:
338394
Concept ID:
C1848138
Disease or Syndrome
Synonyms: SXI1
 
Gene (location): XIST (Xq13.2)
OMIM®: 300087

Definition

In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all somatic tissues. In the embryo proper, the process of X inactivation is considered to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation. Genetic Heterogeneity of Skewed X Inactivation See also SXI2 (300179) for a locus that maps to chromosome Xq25-q26. [from GTR]

Additional description

From OMIM
In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all somatic tissues. In the embryo proper, the process of X inactivation is considered to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation. Genetic Heterogeneity of Skewed X Inactivation See also SXI2 (300179) for a locus that maps to chromosome Xq25-q26.  http://www.omim.org/entry/300087

Clinical features

Spontaneous abortion
MedGen UID:
39
Concept ID:
C0000786
Pathologic Function
A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy.

Recent clinical studies

Therapy

Sharma A, Kaut O, Pavlova A, Fröhlich H, Ahmad A, Schmitt I, El-Maarri O, Oldenburg J, Wüllner U
Neurobiol Aging 2017 Sep;57:248.e1-248.e5. Epub 2017 Jun 6 doi: 10.1016/j.neurobiolaging.2017.05.021. PMID: 28663000

Clinical prediction guides

Sharma A, Kaut O, Pavlova A, Fröhlich H, Ahmad A, Schmitt I, El-Maarri O, Oldenburg J, Wüllner U
Neurobiol Aging 2017 Sep;57:248.e1-248.e5. Epub 2017 Jun 6 doi: 10.1016/j.neurobiolaging.2017.05.021. PMID: 28663000

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