ArticleMolecular genetics & genomic medicine2019
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic sequencing of children with malrotation and midgut volvulus: A cross-sectional study.JPGN reports · 2026Article
- Management of midgut volvulus in an incomplete common mesentery in a 17-year-old patient: a case report and literature review.International journal of surgery case reports · 2026Article
- Rare variants in TTC7A, ROCK2 and LIMK2 suggest a role for the ROCK-signaling pathway in isolated intestinal malrotation.Pediatric surgery international · 2026Article
- Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China.The application of clinical genetics · 2026Article
- Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.Frontiers in pediatrics · 2026Article
- Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report.BMC pediatrics · 2024Article
- Developmental regulation of cellular metabolism is required for intestinal elongation and rotation.Development (Cambridge, England) · 2024Article
- PolypeptideMolecules (Basel, Switzerland) · 2021Review
- A Heterozygous Missense Variant inAnimals : an open access journal from MDPI · 2021Article
- Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.Annals of pediatric endocrinology & metabolism · 2021Article
- Article
- Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations.Molecular genetics & genomic medicine · 2020Article
- Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIntestinal malrotation is a potentially life-threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%-1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes with known genotype but the genetic contribution in isolated intestinal malrotation has not yet been reported. Rare copy number variants (CNVs) have been implicated in many congenital anomalies, and hence we sought to investigate the potential contribution of rare CNVs in intestinal malrotation.
methodsAnalysis of array comparative genomic hybridization (aCGH) data from 47 patients with symptomatic intestinal malrotation was performed.
resultsWe identified six rare CNVs in five patients. Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion, HDAC8 (Cornelia de Lange syndrome type 5 and FOXF1) as well as one intragenic deletion in GALNT14, not previously implicated in human disease.
conclusionIn the present study, we identified rare CNVs contributing pathogenic or potentially pathogenic alleles in five patients with syndromic intestinal malrotation, suggesting that CNV screening is indicated in intestinal malrotation with associated malformations or neurological involvements. In addition, we identified intestinal malrotation in two known syndromes (Cornelia de Lange type 5 and 18q terminal deletion syndrome) that has not previously been associated with gastrointestinal malformations.
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