Diploid/tetraploid/t(1;6) mosaicism in a 17‐year‐old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry

Leonard, Norma; Tomkins, Darrell J.

doi:10.1002/ajmg.10662

Cited by 22 publications

(10 citation statements)

References 26 publications

(19 reference statements)

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“…Two patients with cloacal exstrophy and chromosomal deletions have been reported: one patient carrying an unbalanced translocation between chromosome 9 and the Y chromosome, resulting in monosomy for chromosome 9q34.1‐qter, and one patient with del(3)(q12.2q13.2) [Thauvin‐Robinet et al, 2004; Kosaki et al, 2005]. One additional patient with OEIS complex and hypomelanosis of Ito has been reported [Leonard and Tomkins, 2002]. This patient was mosaic for a cell line with t(1;6) (p32;q13) in fibroblasts.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

Vlangos

Siuniak

Ackley

et al. 2010

American J of Med Genetics Pt A

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Omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex, or cloacal exstrophy (EC), is a rare constellation of malformations in humans involving the urogenital, gastrointestinal, and skeletal systems, and less commonly the central nervous system. Although OEIS complex is well-recognized in the clinical setting, there remains a significant lack of understanding of this condition at both the developmental and the genetic level. While most cases are sporadic, familial cases have been reported, suggesting that one or more specific genes may play a significant role in this condition. Several developmental mechanisms have been proposed to explain the etiology of OEIS complex, and it is generally considered to be a defect early in caudal mesoderm development and ventral body wall closure. The goal of this study was to identify genetic aberrations in 13 patients with OEIS/EC using a combination of candidate gene analysis and microarray studies. Analysis of 14 candidate genes in combination with either high resolution SNP or oligonucleotide microarray did not reveal any disease-causing mutations, although novel variants were identified in five patients. To our knowledge, this is the most comprehensive genetic analysis of patients with OEIS complex to date. We conclude that OEIS is a complex disorder from an etiological perspective, likely involving a combination of genetic and environmental predispositions. Based on our data, OEIS complex is unlikely to be caused by a recurrent chromosomal aberration.

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Section: Discussionmentioning

confidence: 99%

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

Vlangos

Siuniak

Ackley

et al. 2010

American J of Med Genetics Pt A

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“…An early insult that affects not only the bladder but the mesenchymal precursors of the kidney and the cells populating the gonads, may account for the solitary kidney in CE patients and the reported 400‐fold greater chance for an affected individual to have an affected offspring [31]. A recent report of a patient with CE and chromosomal tissue mosaicism [32] also suggests that BEEC can occur as a result of a somatic event in the mesenchyme at the stage of the three germ‐layer embryo.…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular characterization of the bladder exstrophy‐epispadias complex: analysis of 232 families

Boyadjiev¹,

Dodson

Radford³

et al. 2004

BJU International

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OBJECTIVETo identify genetic and nongenetic factors contributing to the risk of bladder exstrophyepispadias complex (BEEC). PATIENTS AND METHODSIn all, 285 families with BEEC were invited to participate in the study, and 232 of them were recruited. Epidemiological information was obtained from 151 of the consenting families, with a detailed clinical genetic examination of 94 probands. In all, 440 DNA samples were collected from 163 families for molecular analysis.

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“…Direct duplication of chromosome 1, dir dup(1) p21.2-p32 with multiple congenital anomalies including an inguinal hernia was also reported 48. Similarly, a girl has been described with multiple congenital anomalies, including an omphalocele but with a diploid/tetraploid karyotype and mosaicism for a translocation involving chromosome band 1p32 [46,XX,t(1;6)(p32;q13)] 49. Halal et al 50 also described translocations between chromosomes 1 and 2, along with a duplication of chromosome 1p in which several congenital anomalies including an umbilical hernia were reported.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2012

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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.

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Diploid/tetraploid/t(1;6) mosaicism in a 17‐year‐old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry

Cited by 22 publications

References 26 publications

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

Clinical and molecular characterization of the bladder exstrophy‐epispadias complex: analysis of 232 families

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

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