مورد إلكتروني
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
| العنوان: | Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. |
|---|---|
| المصدر: | Journal of medical genetics, Vol. 48, no.5, p. 299-307 (2011) |
| بيانات النشر: | British Medical Association 2011 |
| تفاصيل مُضافة: | Bambino Gesù Children’s Hospital, Rome - Department of Medical and Surgical Neonatology Wat, Margaret J Veenma, Danielle Hogue, Jacob Holder, Ashley M Yu, Zhiyin Wat, Jeanette J Hanchard, Neil Shchelochkov, Oleg A Fernandes, Caraciolo J Johnson, Anthony Lally, Kevin P Slavotinek, Anne Danhaive, Olivier Schaible, Thomas Cheung, Sau Wai Rauen, Katherine A Tonk, Vijay S Tibboel, Dick de Klein, Annelies Scott, Daryl A |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | BACKGROUND: Congenital diaphragmatic hernia (CDH) is a life threatening birth defect. Most of the genetic factors that contribute to the development of CDH remain unidentified. OBJECTIVE: To identify genomic alterations that contribute to the development of diaphragmatic defects. METHODS: A cohort of 45 unrelated patients with CDH or diaphragmatic eventrations was screened for genomic alterations by array comparative genomic hybridisation or single nucleotide polymorphism based copy number analysis. RESULTS: Genomic alterations that were likely to have contributed to the development of CDH were identified in 8 patients. Inherited deletions of ZFPM2 were identified in 2 patients with isolated diaphragmatic defects and a large de novo 8q deletion overlapping the same gene was found in a patient with non-isolated CDH. A de novo microdeletion of chromosome 1q41q42 and two de novo microdeletions on chromosome 16p11.2 were identified in patients with non-isolated CDH. Duplications of distal 11q and proximal 13q were found in a patient with non-isolated CDH and a de novo single gene deletion of FZD2 was identified in a patient with a partial pentalogy of Cantrell phenotype. CONCLUSIONS: Haploinsufficiency of ZFPM2 can cause dominantly inherited isolated diaphragmatic defects with incomplete penetrance. These data define a new minimal deleted region for CDH on 1q41q42, provide evidence for the existence of CDH related genes on chromosomes 16p11.2, 11q23-24 and 13q12, and suggest a possible role for FZD2 and Wnt signalling in pentalogy of Cantrell phenotypes. These results demonstrate the clinical utility of screening for genomic alterations in individuals with both isolated and non-isolated diaphragmatic defects. |
| مصطلحات الفهرس: | Amino Acid Substitution, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 17, Chromosomes, Human, Pair 8, Comparative Genomic Hybridization, DNA-Binding Proteins, Diaphragmatic Eventration, Female, Genome, Human, Hernia, Diaphragmatic, Hernias, Diaphragmatic, Congenital, Humans, Infant, Infant, Newborn, Male, Mutation, Radiography, Transcription Factors, info:eu-repo/semantics/article |
| URL: | |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | English |
| أرقام أخرى: | UCDLC oai:dial.uclouvain.be:boreal:231379 boreal:231379 info:doi/10.1136/jmg.2011.089680 info:pmid/21525063 urn:ISSN:0022-2593 urn:EISSN:1468-6244 1226572974 |
| المصدر المساهم: | UNIVERSITE CATHOLIQUE DE LOUVAIN From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1226572974 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |