Taxon:

Human

Gene:

"UPD"

Chromosome:

20

Location:

Description:

Mulchandani S et al (2016) report eight cases of maternal UPD of chromosome 20 with normal karyotypes. All individuals had intra-uterine growth restriction (IUGR) and failure to thrive. Six of the cases required chronic gastric tube feedings. The authors postulate an imprinting disorder due to maternal UPD of chromosome 20.

Pseudohypoparathyroidism type Ib (PHP-Ib), characterised by resistance to parathyroid hormone (PTH), has been identified in patients with paternal UPD of chromosome 20. PHP-Ib is caused by imprinting defects of GNAS, the gene that codes for the alpha subunit of guanine nucleotide binding protein (G(s)α). G(s)α is an important signaling protein for the action of PTH (Bastepe M et al 2011; Fernández-Rebollo E et al 2010).
Geelen J et al (2013) report a case of severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID) due to paternal UPD of chromosome 20. This revealed homozygosity for a 5bp deletion in the ADA gene.

Category:

Disomy (UPD)

Record:

259

Last Modified 1/27/2017

Links:


*To look at further records use the Back button on your browser to return to the Summary Table

New Search

Home