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8 records found


Taxon: Human

Chromosome: 04

Location:

Gene: "UPD"

Description: Several cases of maternal UPD have been reported.
A phenotypically normal woman presented with repeated early miscarriages. The karyotype showed iso(4p) and iso(4q) and biochemical "polymorphisms" suggested maternal disomy. The abstract ambiguously states that polymorphic chromosome 4 marker studies indicated that she was possibly isodisomic (Lindenbaum RH et al, Am J Med Genet. 1991; 49(Suppl): p. 285; A1582).
Spena S et al (2004) described a case of congenital afibrinogenaemia in a Thai proband due to maternal isodisomy. A 15-kb deletion was discovered in the FGA intron and FGA-FGB intergenic region. Imprinting was considered unlikely.
In a whole genome linkage study of psychiatric disorders in a Portuguese population a case of maternal isodisomy was identified in an adult female with a history of major depressive disorder (MDD). Apart from MDD the individual was phenotypically normal (Middleton FA et al 2006).
Losekoot M et al (2012) reported a neonate with polycystic kidney disease, homozygous for a missense mutation in PKD2 due to segmental maternal isodisomy at the region of the PKD2 locus; the remainder of chromosome 4 displayed maternal heterodisomy.
Cotrell CE et al (2012) described a male patient with limb-girdle muscular dystrophy 2E (LGMD 2E) due to maternal UPD, leading to homozygosity for a mutation.
Papadimitriou DT et al (2015) reported a 10 year old female patient with Wolfram Syndrome (WS) caused by maternal isodisomy that unmasked a mutation in the WFS1 gene.
It is unlikely that there are any phenotypically significant maternally imprinted genes on chromosome 4, as in all cases reported so far, apart from the disease caused by homozygosity for specific mutations, the patients were phenotypically normal.

A case of paternal UPD has been identified by Faas BH et al (2010). The male proband had renal anomalies, a high forehead, small palpebral fissures, “rough” hands and feet with prominent distal phalanges, broad knees and normal psychomotor development.

Category: Disomy (UPD)

Record:9 Last Modified 1/23/2017

Taxon: Human

Chromosome: 04

Location: 4q21-q22

Gene: "4q21/q23 syndrome"

Description: Anomalous imprinting has been hypothesised as the reason for the central nervous system overgrowth in the 4q21/4q23 syndrome (no direct evidence) (Nowaczyk MJM et al, 1997).

Category: Other

Record:8 Last Modified 4/27/2010

Taxon: Human

Chromosome: 04

Location: 4q22.1

Gene: NAP1L5 (DRLM)

Description: NAP1L5 (nucleosome assembly protein 1-like 5) was exclusively expressed from the paternal allele in fetal brain, heart and tongue in one informative fetus, and monoallelically expressed in two additional fetuses (same tissues) (Wood AJ et al, 2007).
Nap1l5 (nucleosome assembly protein 1 - like 5) is also imprinted (paternally expressed) in mice (Smith RJ et al, 2003).
Based on the position of the mouse germline DMR the human DMR is likely to be at approximately chr4:89,837,750-89,838,150 (NCBI Build 36.1).

Category: Imprinted genes

Links: Gene   Record:400 Last Modified 11/27/2007

Taxon: Human

Chromosome: 04

Location: 4q26

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 FABP2 in affected siblings (P = 0.0003 and P = 0.0005 for ALDX1 and ALDX3 class alcoholism respectivley) only when the allele was transmitted maternally (Wyszynski DF et al, 1999).

Category: Parental effect

Links: Gene   Record:479 Last Modified 12/4/2005

Taxon: Human

Chromosome: 04

Location: 4q31.21

Gene: GAB1

Description: Although in mice, GAB1 (GRB2-associated binding protein 1) was expressed exclusively from the paternal allele in placenta as well as in primary trophoblast stem cell culture (Okae H et al, 2012), the gene showed biallelic expression in all five human placentas studied.

Category: Other

Links: Gene   Record:1299 Last Modified 5/26/2013

Taxon: Human

Chromosome: 04

Location: 4q31.3

Gene: SFRP2

Description: SFRP2 (secreted frizzled-related protein 2) showed monoallelical methylation in villi from 10 first trimester human placentas. In five cases the methylated allele could be identified as paternal (Guilleret I et al, 2009).

Category: Parental effect

Links: Gene   Record:1226 Last Modified 1/6/2009

Taxon: Human

Chromosome: 04

Location: 4q32, 157.9 Mb (GRCh37)

Gene: PDGFC

Description: An excess of maternal transmission and a deficit of paternal transmission of the allele A of rs17035464 in exon 1 of PDGF-C was observed among 214 family trios of Han Chinese with cleft lip with or without cleft palate (Wu D et al, 2012).

Category: Parental effect

Links: Gene   Record:1322 Last Modified 10/8/2012

Taxon: Human

Chromosome: 04

Location: 4q35

Gene: "Asthma"

Description: D4S426 showed significant differences in linkage with atopy and serum IgE levels between maternal and paternal alleles (Daniels SE et al, 1996).

Category: Parental effect

Record:249 Last Modified 4/27/2010

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