Omphalocele in three generations with autosomal dominant transmission

Kanagawa, Sugayo; Begleiter, Michael L.; Ostlie, Daniel J.; Holcomb, George; Drake, William; Butler, Merlin G.

doi:10.1136/jmg.39.3.184

Cited by 24 publications

(9 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Genetic inheritance of omphaloceles have reported pedigrees consistent with autosomal dominant, autosomal recessive and X-linked inheritance [101][102][103][104][105].…”

Section: Incidence and Epidemiologymentioning

confidence: 99%

Congenital Abdominal Wall Defects: An Update

Wilson¹,

Johnson²

2004

Fetal Diagn Ther

156

122

View full text Add to dashboard Cite

Objective: To review published peer-reviewed literature regarding abdominal wall defects including gastroschisis and omphalocele. Methods: Review of published peer-reviewed literature using Med Line 1985–2003 and textbooks. Results: Gastroschisis and omphalocele literature is reviewed using pathology, incidence and epidemiology, prenatal evaluation, pregnancy and delivery management, postnatal outcome and fetal therapy. Conclusion: Gastroschisis and omphalocele are common abdominal wall defects and have significant morbidity and mortality.

show abstract

“…Genetic inheritance of omphaloceles have reported pedigrees consistent with autosomal dominant, autosomal recessive and X-linked inheritance [101][102][103][104][105].…”

Section: Incidence and Epidemiologymentioning

confidence: 99%

Congenital Abdominal Wall Defects: An Update

Wilson¹,

Johnson²

2004

Fetal Diagn Ther

156

122

View full text Add to dashboard Cite

show abstract

“…We have discovered that individual 22 may have been affected, although he was reported previously as unaffected 6. While re-interviewing family members, we discovered that individual 22 had undergone previous abdominal surgery and had scars, though no diagnosis of an omphalocele was known to his children.…”

Section: Discussionmentioning

confidence: 90%

“…Here, we report a genome-wide linkage analysis in a large Caucasian family (UR0114) with non-syndromic omphalocele and an autosomal dominant mode of inheritance 6. This analysis provides significant evidence for a susceptibility locus in a genomic region of 2.74 Mb on chromosome 1p31.3.…”

Section: Introductionmentioning

confidence: 86%

See 1 more Smart Citation

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

et al. 2012

View full text Add to dashboard Cite

Background Omphalocele is a congenital birth defect characterised by the presence of internal organs located outside of the ventral abdominal wall. The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal dominant Caucasian family with omphalocele. Methods and findings A genetic linkage study was conducted in a large family with an autosomal dominant transmission of an omphalocele using a genome-wide single nucleotide polymorphism (SNP) array. The analysis revealed significant evidence of linkage (non-parametric NPL = 6.93, p=0.0001; parametric logarithm of odds (LOD) = 2.70 under a fully penetrant dominant model) at chromosome band 1p31.3. Haplotype analysis narrowed the locus to a 2.74 Mb region between markers rs2886770 (63014807 bp) and rs1343981 (65757349 bp). Molecular characterisation of this interval using array comparative genomic hybridisation followed by quantitative microsphere hybridisation analysis revealed a 710 kb duplication located at 63.5–64.2 Mb. All affected individuals who had an omphalocele and shared the haplotype were positive for this duplicated region, while the duplication was absent from all normal individuals of this family. Multipoint linkage analysis using the duplication as a marker yielded a maximum LOD score of 3.2 at 1p31.3 under a dominant model. The 710 kb duplication at 1p31.3 band contains seven known genes including FOXD3, ALG6, ITGB3BP, KIAA1799, DLEU2L, PGM1, and the proximal portion of ROR1. Importantly, this duplication is absent from the database of genomic variants. Conclusions The present study suggests that development of an omphalocele in this family is controlled by overexpression of one or more genes in the duplicated region. To the authors’ knowledge, this is the first reported association of an inherited omphalocele condition with a chromosomal rearrangement.

show abstract

“…Genetic diseases and polymalformative syndromes are commonly diagnosed in fetuses and neonates with omphalocele. In the most cases (28 to 50%), omphaloceles are isolated and are considered as sporadic and weakly recurrent [22][23][24]. In most cases (more than 50%), the malformation is linked to various pathologies and can be a call sign of genetic disorders [9,16].…”

Section: Genetic Originsmentioning

confidence: 99%

Omphalocele: a review of common genetic etiologies

Poaty

Pelluard

Diallo

et al. 2019

Egypt J Med Hum Genet

View full text Add to dashboard Cite

Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect is observed in Congolese hospitals, but risk factors are not well precised on the published case reports, which are more often focused on management. We aim in this paper to make a review on the condition, insisting on the risk factors of omphaloceles mainly of those of genetic origins.

show abstract

Omphalocele in three generations with autosomal dominant transmission

Cited by 24 publications

References 6 publications

Congenital Abdominal Wall Defects: An Update

Congenital Abdominal Wall Defects: An Update

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Omphalocele: a review of common genetic etiologies

Contact Info

Product

Resources

About