Taxon:

Human

Gene:

"UPD"

Chromosome:

09

Location:

Description:

Two patients with cartilage-hair hypoplasia (CHH) were reported to have maternal UPD of chromosome 9. CHH is a disorder of bone growth (Sulisalo T et al 1997).
Maternal UPD of chromosome 9 was reported in a spontaneous abortion. The embryo had growth retardation (Fritz B et al 2001).
Maternal UPD of chromosome 9 has been reported in two monozygotic twins. In this case two mutated SURF-1 genes were inherited resulting in Leigh syndrome (LS). LS is a mitochondrial disorder characterised by rapid and progressive degeneration of the brain stem, diencephalon and basal ganglia. Both patients died in their third year of life (Tiranti V et al 1999).
In a patient with syndromic congenital hypothyroidism, maternal UPD of chromosome 9 was discovered. This proband was homozygous for a FOXE1 mutation (Castanet M et al 2010).
Maternal UPD of chromosome 9 has been associated with a case of sarcosinaemia (Bar-joseph I et al 2012).
From the Deciphering Developmental Disorders (DDD) study, a 15-year-old-proband with a congenital heart defect and global developmental delay was discovered to have maternal isodisomy of chromosome 9 (King DA et al 2014).
A woman with normal phenotype, apart from repeat spontaneous abortions, was reported to have maternal UPD of chromosome 9 (Björck EJ et al 1999).
This evidence suggests that there are no phenotypically important maternally imprinted genes on chromosome 9.

One case of paternal UPD of chromosome 9 was identified in a clinical whole-exome sequencing study. The 20-year-old proband was homozygous for a mutation in the SIGMAR1 gene (Yang Y et al 2014).

Category:

Disomy (UPD)

Record:

22

Last Modified 1/20/2017

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