Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization

Chen, Chih‐Ping; Su, Yi Ning; Tsai, Fuu Jen; Lin, Ming Huei; Wu, Pei Chen; Chern, Schu‐Rern; Lee, Chen Chi; Pan, Chen-Wen; Wang, Wayseen

doi:10.1016/j.tjog.2010.04.001

Cited by 7 publications

(4 citation statements)

References 25 publications

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“…During mouse embryogenesis, high levels of Glypican 5 are expressed in the neural tube (72). Consistent with a potential role of glypicans in spina bifida, patients with 13q deletions that sometimes remove GPC5 and GPC6 can present with NTDs (23,73). Collectively, these results implicate the glypican gene family in promoting normal neural tube development.…”

Section: Introductionmentioning

confidence: 58%

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

Bassuk

Muthuswamy

Boland³

et al. 2012

Human Molecular Genetics

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Neural tube defects (NTDs) are common birth defects of complex etiology. Family and population-based studies have confirmed a genetic component to NTDs. However, despite more than three decades of research, the genes involved in human NTDs remain largely unknown. We tested the hypothesis that rare copy number variants (CNVs), especially de novo germline CNVs, are a significant risk factor for NTDs. We used array-based comparative genomic hybridization (aCGH) to identify rare CNVs in 128 Caucasian and 61 Hispanic patients with non-syndromic lumbar-sacral myelomeningocele. We also performed aCGH analysis on the parents of affected individuals with rare CNVs where parental DNA was available (42 sets). Among the eight de novo CNVs that we identified, three generated copy number changes of entire genes. One large heterozygous deletion removed 27 genes, including PAX3, a known spina bifida-associated gene. A second CNV altered genes (PGPD8, ZC3H6) for which little is known regarding function or expression. A third heterozygous deletion removed GPC5 and part of GPC6, genes encoding glypicans. Glypicans are proteoglycans that modulate the activity of morphogens such as Sonic Hedgehog (SHH) and bone morphogenetic proteins (BMPs), both of which have been implicated in NTDs. Additionally, glypicans function in the planar cell polarity (PCP) pathway, and several PCP genes have been associated with NTDs. Here, we show that GPC5 orthologs are expressed in the neural tube, and that inhibiting their expression in frog and fish embryos results in NTDs. These results implicate GPC5 as a gene required for normal neural tube development.

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Section: Introductionmentioning

confidence: 58%

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

Bassuk

Muthuswamy

Boland³

et al. 2012

Human Molecular Genetics

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“…In this study, only conventional cytogenetic analyses were performed. Recent studies using array comparative genomic hybridization have led to identify several copy number variations but these studies concerned isolated case reports only and no large series have been published until now [37,38,39,40,41,42]. …”

Section: Discussionmentioning

confidence: 99%

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

et al. 2014

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Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current efficiency of prenatal diagnosis in Alsace (northeastern France). Methods: A population-based retrospective study was performed from data of the Registry of Congenital Malformations of Alsace between 1995 and 2009. Data were analyzed as a whole and according to the anatomical type of the malformation (anencephaly, cephalocele and spina bifida). Statistical analyses were carried out using the Statistical Package for the Social Sciences. Results: 272 NTDs were recorded divided in 113 cases of anencephaly (42%), 35 cases of cephalocele (13%) and 124 cases of spina bifida (45%). The total prevalence at birth of 14/10,000 (95% CI 13-16) was stable throughout the reporting period. A chromosome abnormality was identified in 27 cases (12% of all karyotyped cases). NTDs were prenatally diagnosed by ultrasound in 88% of the cases. The mean age upon prenatal diagnosis slightly declined during the 15-year period, significantly for spina bifida only. The global rate of terminations of pregnancy following prenatal diagnosis was 97% (230/238). Conclusion: This work constitutes a unique population-based study providing accurate and specific up-to-date data from a unique center over a longer period (1995-2009). The most important information concerns the high and stable prevalence, which calls into question the efficiency of the primary prevention by folic acid supplementation and the efficiency of prenatal diagnosis.

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“…The association of increased nuchal translucency with a submicroscopic copy number variant (CNV) is based almost exclusively on individual clinic reports [32][33][34]. Leung et al [35] found CNVs in 12.5% (6/48) of cases with nuchal translucency more than 3.5 mm in first trimester screening, four of which (8.3%) were considered to be pathogenic and clinically significant.…”

Section: Chromosome Microarraymentioning

confidence: 99%

Increased nuchal translucency in the presence of normal chromosomes

Alamillo

Fiddler

Pergament

2012

Current Opinion in Obstetrics &Amp; Gynecology

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Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization

Cited by 7 publications

References 25 publications

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

Increased nuchal translucency in the presence of normal chromosomes

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