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
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
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.
was homozygous for a FOXE1 mutation (Castanet
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
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
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).