Imprinted Gene Catalogue Banner

11 records found


Taxon: Human

Chromosome: 05

Location:

Gene: "UPD"

Description: Maternal UPD has been reported.
Two cases of Netherton syndrome (NS) have occurred as a result of maternal UPD of chromosome 5 (Lin SP et al 2007; Namuta S et al 2014). NS is characterised by congenital ichthyosiform erythroderma and hair shaft abnormalities.
Melone MAB et al (2014) report a case of Stüve- Wiedemann syndrome (STWS) without long bone dysplasia as a result of maternal UPD. Typical presentation of STWS includes skeletal dysplasia, camptodactyly, sucking and swallowing difficulties, episodes of respiratory distress and hyperthermia.
Maternal UPD was reported in a patient with congenital sodium diarrhea (CSD). CSD is diarrhea of intrauterine onset with high faecal sodium loss (Janecke AR et al 2015).

Paternal UPD has also been reported.
Paternal UPD has been reported in a 2-year-old boy with type III spinal muscular atrophy, an autosomal recessive condition (Brzustowics LM, et al. 1994).
Segmental paternal uniparental isodisomy of 5q32-qter was detected in one female with childhood-onset schizophrenia (Seal JL et al, 2006).
García MM et al (2014) report a case of autosomal recessive multiple epiphyseal dysplasia (EDM4/rMED) due to paternal UPD. This disorder is characterised by childhood onset joint pain at the hips and knees, brachydactyly, shortened (or normal) stature and in some cases congenital clubfoot.

Category: Disomy (UPD)

Record:11 Last Modified 2/2/2017

Taxon: Human

Chromosome: 05

Location: 05q32-qter,

Gene: "Childhood-onset schizophrenia"

Description: Segmental paternal uniparental isodisomy of 5q32-qter was detected in one female with childhood-onset schizophrenia (Seal JL et al, 2006).

Category: Disomy (UPD)

Record:1074 Last Modified 11/6/2006

Taxon: Human

Chromosome: 05

Location: 16.7 - 23.3 cM

Gene: Type II diabetes susceptibility locus

Description: In a genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of type II diabetes (age of onset < 45 years) in Pima Indians, a region on chromosome 5 showed evidence of linkage to paternal alleles (LOD = 1.7) but not maternal (LOD = 0) (Lindsay RS et al. 2001).

Category: Parental effect

Links: Record:449 Last Modified 31/08/2005

Taxon: Human

Chromosome: 05

Location: 16.7 cM

Gene: “Type II diabetes susceptibility locus”

Description: Analysis of maternal transmission to non-obese diabetics showed linkage to a region on 5q with a peak LOD score of 3.48 (P= 3.12 x 10–5) at the marker DG5S45, compared to the maximum score for paternal transmission of LOD = 0.53 at marker DG5S910. (Reynisdottir I, et al. 2003).

Category: Parental effect

Record:430 Last Modified 1/12/2003

Taxon: Human

Chromosome: 05

Location: 56.2 - 59.7 cM

Gene: Type II diabetes susceptibility locus

Description: In a genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of type II diabetes in Pima Indians, a region on chromosome 5 showed evidence of linkage to maternal alleles (LOD = 1.5) but not paternal (LOD = 0) (Lindsay RS et al. 2001).

Category: Parental effect

Links: Record:444 Last Modified 31/08/2005

Taxon: Human

Chromosome: 05

Location: 5p13.1

Gene: "Cornelia de Lange syndrome"

Description: Cornelia de Lange (Brachmann-de Lange) syndrome shows a variable phenotype with growth retardation, facial dysmorphism including micrognathia, microbrachycephaly, small hands and feet, and mental retardation. In an early report, in almost all convincing autosomal dominant cases the transmitting parent was the mother (de Die-Smulders C et al, 1992). However, paternal transmission (and a review of the inheritance patterns) is provided by Russell et al (2001).

Category: Other

Links: OMIM    Record:66 Last Modified 4/30/2010

Taxon: Human

Chromosome: 05

Location: 5q15

Gene: RHOBTB3 (provisional)

Description: RHOBTB3 (Rho-related BTB domain containing 3) was differentially methylated in placentas and showed maternal methylation (Yuen RK et al, 2011). Monoallelic expression was detected in 3 of 4 informative placentas and in two of two informative families, expression was shown to be from the expected parent (presumably paternal but not stated).
Metsula T et al (2014) showed strong evidence of preferential paternal expression in the placentas in three informative families.
Given that the literature reports only 5 placentas that are informative for parent of origin expression, it would be useful to see additional independent data.

Category: Imprinted genes

Links: Gene   Record:1379 Last Modified 3/4/2015

Taxon: Human

Chromosome: 05

Location: 5q22.2

Gene: APC

Description: APC (adenomatous polyposis coli) showed monoallelic methylation in villi from seven first trimester human placentas. In four cases the methylated allele could be identified as maternal (Guilleret I et al, 2009).
In the liver the parental origin of monoallelic methylation was random (Guilleret I et al, 2009).

Category: Other

Links: Gene   Record:1225 Last Modified 1/6/2009

Taxon: Human

Chromosome: 05

Location: 5q32

Gene: SPINK5

Description: A panel of families with children with atopic dermatitis (338 children total) was analysed by transmission disequilibrium for inheritance of common polymorphisms of SPINK5. Asn368 and Lys420 were shown to be significantly associated (P = 0.005 and P = 0.023) with an increased risk of atopy when maternally inherited. These alleles were further investigated in a second panel (215 offspring) which showed significant association of the maternally derived Lys420 allele with atopy, atopic dermatitis, asthma and total serum IgE (P = 0.008, 0.002, 0.012, 0.040) (Walley AJ et al, 2001).
Polymorphisms in the SPINK5 (serine protease inhibitor, kazal-type; 5) gene have been associated with atopic dermatitis in a Japanese population and inheritance is preferentially maternal (Nishio Y et al. 2003).

Category: Other

Links: OMIM    Gene   Record:465 Last Modified 4/30/2010

Taxon: Human

Chromosome: 05

Location: 5q32-q33.1

Gene: TCOF1 (Cleft palate)

Description: A parent of origin effect was observed in the association between markers in TCOF1 (Treacher Collins-Franceschetti syndrome 1) and isolated, nonsyndromic cleft palate using a case-parent trios. One SNP (rs15251) showed excess maternal transmission significant at the P=0.005 level (OR=6.50) (Sull JW et al, 2008).

Category: Parental effect

Links: Gene   Record:1200 Last Modified 9/15/2008

Taxon: Human

Chromosome: 05

Location: 67.4 - 75.4 cM

Gene: Body mass index (BMI), obesity

Description: In a genome-wide linkage analysis assessing parent-of-origin effects in the inheritance of body mass index (kg/m2) in Pima Indians, a region on chromosome 5 showed evidence of linkage to maternal alleles (LOD = 1.7) but not paternal (LOD = 0)(Lindsay RS et al. 2001).

Category: Parental effect

Links: Record:450 Last Modified 5/31/2011

Return to the Search Engine.

Return to return to the front page.


(Format File = Record.html)