Journal article
Rare copy number variants identified in prune belly syndrome
European journal of medical genetics, Vol.61(3), pp.145-151
03/2018
DOI: 10.1016/j.ejmg.2017.11.008
PMCID: PMC5803418
PMID: 29174092
Abstract
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4 females) with PBS identified from all live births in New York State (1998–2005) were genotyped using Illumina HumanOmni2.5 microarrays. CNVs were prioritized if they were absent from in-house controls, encompassed ≥10 consecutive probes, were ≥20 Kb in size, had ≤20% overlap with common variants in population reference controls, and had ≤20% overlap with any variant previously detected in other birth defect phenotypes screened in our laboratory. We identified 17 candidate autosomal CNVs; 10 cases each had one CNV and four cases each had two CNVs. The CNVs included a 158 Kb duplication at 4q22 that overlaps the BMPR1B gene; duplications of different sizes carried by two cases in the intron of STIM1 gene; a 67 Kb duplication 202 Kb downstream of the NOG gene, and a 1.34 Mb deletion including the MYOCD gene. The identified rare CNVs spanned genes involved in mesodermal, muscle, and urinary tract development and differentiation, which might help in elucidating the genetic contribution to PBS. We did not have parental DNA and cannot identify whether these CNVs were de novo or inherited. Further research on these CNVs, particularly BMP signaling is warranted to elucidate the pathogenesis of PBS.
Details
- Title: Subtitle
- Rare copy number variants identified in prune belly syndrome
- Creators
- Nansi S Boghossian - Department of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, Columbia, SC, United StatesRobert J Sicko - Division of Genetics, Wadsworth Center, Department of Health, Albany, NY, United StatesAndreas Giannakou - Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United StatesAggeliki Dimopoulos - Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United StatesMichele Caggana - Division of Genetics, Wadsworth Center, Department of Health, Albany, NY, United StatesMichael Y Tsai - Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United StatesEdwina H Yeung - Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United StatesNathan Pankratz - Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United StatesBenjamin R Cole - Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United StatesPaul A Romitti - Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA, United StatesMarilyn L Browne - New York State Department of Health, Congenital Malformations Registry, Albany, NY, United StatesRuzong Fan - Department of Biostatistics, Bioinformatics, and Biomathematics, Georgetown University Medical Center (GUMC), Washington, DC, United StatesAiyi Liu - Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United StatesDenise M Kay - Division of Genetics, Wadsworth Center, Department of Health, Albany, NY, United StatesJames L Mills - Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States
- Resource Type
- Journal article
- Publication Details
- European journal of medical genetics, Vol.61(3), pp.145-151
- DOI
- 10.1016/j.ejmg.2017.11.008
- PMID
- 29174092
- PMCID
- PMC5803418
- NLM abbreviation
- Eur J Med Genet
- ISSN
- 1769-7212
- eISSN
- 1878-0849
- Publisher
- Elsevier Masson SAS
- Grant note
- DOI: 10.13039/100004440, name: Wellcome Trust
- Language
- English
- Date published
- 03/2018
- Academic Unit
- Epidemiology; Biostatistics
- Record Identifier
- 9983996075002771
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