Taxon: Human

Chromosome: 09

Location:

Gene: "UPD"

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)

Taxon: Human

Chromosome: 09

Location: 9p13

Gene: Differentially methylated region (disputed)

Description: This region contains a CpG island that was differentially methylated between a hydatidiform mole (paternal origin) and a complete ovarian teratoma (maternal origin) (Strichman-Almashanu LZ et al 2002).
In contrast, Weeks RJ & Morison IM, 2006 found marked variation in methylation within this putative DMR, but no evidence for a parent-of-origin effect.

Category: DMR or ICR

Taxon: Human

Chromosome: 09

Location: 9p21.3-9p22.2; 30 cM; 17.6-24.5 Mb

Gene: Autism susceptibility

Description: Data from a genome-wide scan for autism susceptibillity loci in 219 affected sib-pairs were analysed by parent-of-origin linkage modelling. This indicated a distinct region of maternal identity by descent sharing at ~30 cM (maternal maximum LOD score = 1.99, paternal MLS = 0.02 ) (Lamb JA et al, 2005).

Category: Parental effect

Taxon: Human

Chromosome: 09

Location: 9p22-pter

Gene: 9p22-pter phenotype

Description: Deletion of the paternally derived chromosome 9 (p22-pter) was associated with minimal dysmorphic stigmata (usually 9p deletion is associated with distinctive features). The authors hypothesise that imprinting may influence the phenotype (Kleczkowska A et al, 1992).

Category: Disomy (UPD)

Taxon: Human

Chromosome: 09

Location: 9p24

Gene: GLIS3

Description: GLIS3 was monoallelically expressed in 11 placentas and the expressed allele could be defined as paternal in 6 cases (Barbaux S et al, 2012).
Independently maternal methylation of a placental-specific DMR in exon 1 and intron 1 of GLIS3 was reported(Court F et al, 2014). In addition, paternal expression was confirmed in 2 placentas and monoallelic expression in 1 placenta (Table S2). Expression was biallelic in 1 brain and 3 kidney samples.

Category: Imprinted genes

Taxon: Human

Chromosome: 09

Location: 9p24.3

Gene: "Cerebal Palsy", KANK1

Description: In a family with familial cerebral palsy, the nine affected children all inherited the causative 225 kb deletion paternally (Lerer I et al, 2005). Absence of expression of KANK1 in lymphoblastoid cells from affected individuals raised the possibility that KANK1 is maternally suppressed. However, in the control group and in healthy fathers monoallelic, non-imprinted, expression was observed. Expression of KANK1 did not correlate with DNA methylation at the 5' CpG islands. The 3' DMTR1 gene CpG islands were hypomethylated in affected and control individuals, but hypermethylated in cis with the deletion. The authors postulate that if hypomethylation of the deletion allele occurs, this may result in transcription of a long putative sequence that represses expression of KANK1 (Lerer I et al, 2005).

Category: Parental effect

Taxon: Human

Chromosome: 09

Location: 9q34

Gene: "ABO blood group"

Description: Loss of maternal ABO antigens has been reported in 4/4 acute myeloid leukaemia cases (Dobrovic A et al, 1993).

Category: Other

Taxon: Human

Chromosome: 09

Location: 9q34.13

Gene: Alcoholism

Description: Parent-of-origin effects were observed in sib-pair analysis of 105 families with recurrent alcoholism. The study revealed an increased sharing of the marker D9S64 in affected siblings (P = 0.0004 for ALDX1 class alcoholism) only when the allele was transmitted paternally (Wyszynski DF et al, 1999).

Category: Parental effect