15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

Abstract

Background Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist. Data have shown that omphalocele with co-occurring genetic abnormality has worse prognosis than isolated omphalocele. Chromosomal analysis by a conventional technique such as karyotyping can only detect aneuploidy and large segmental duplication or deletion. Newer techniques such as high-resolution microarray analysis allow for the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to identification of critical region and genes in the pathogenesis of omphalocele. Case Presentation The current study is the initial report of a newborn male with a 15q23 gain and a giant omphalocele. High-resolution chromosomal microarray analysis identified this gain of copy number spanned 676 kb, involving almost the entire NOX5 gene (except for exon 1 of the longer transcript), the entirety of the EWSAT1, GLCE, PAQR5, KIF23, RPLP1, and DRAIC genes and exons 1–3 of the PCAT29 gene. Conclusion To date, this is the first report of an associated 15q23 gain in a case with omphalocele. Interestingly, Giancarlo Ghiselli and Steven A Farber have reported that GLCE knockdown impairs abdominal wall closure in zebrafish. We also identified GLCE gene alteration in our case. This highlights the importance of GLCE in abdominal wall development. Further study of the function of GLCE and other genes might lead to a better understanding of the molecular mechanism of omphalocele.

Omphalocele: a review of common genetic etiologies

“…Their conditional both mutation also results in an omphalocele in mice [38]. We have in Table 2 reported other susceptibility genes for omphalocele (MalaCards 2019; 2013 GRCh38/hg38) [31,39,40].…”

“…It may be noted that chromosomal anomalies are more associated with central omphalocele [9]. Other chromosomal aberrations that can be identified are for instance: triploidy; monosomy X (Turner syndrome); 47, XXY (Klinefelter syndrome); trisomy 16 and 21 (very low contributors); partial trisomy such as dup (1q), dup (3q), dup (4q), dup (5p), dup (6q), dup (11p), dup (15q23), dup (17q) or deletion like del (1q), del (9p); inv (11) [14,16,[29][30][31].…”

The emerging potentials of lncRNA DRAIC in human cancers

“…lncRNA DRAIC was first discovered to act as a tumor suppressor in prostate cancer, but it appears to exert varied biological activity in different diseases. Increasing evidence has indicated that an imbalance in lncRNA DRAIC expression is involved in many diseases especially cancers, including prostate cancer ( 14 – 18 ), lung cancer ( 19 – 21 ), glioma ( 22 – 24 ), breast cancer ( 25 – 27 ), colorectal cancer ( 28 ), esophageal cancer ( 29 ), gastric cancer ( 30 ), nasopharyngeal carcinoma ( 31 ), retinoblastoma ( 32 ), in addition to Hirschsprung’s disease ( 33 , 34 ) and omphalocele ( 35 ). Abnormal expression levels of DRAIC have also been associated with clinicopathological features of patients, such as lymph node metastasis, neoplasm stage, overall survival and progression-free survival.…”