SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

Prenat Diagn 2019 Oct 9;39(11):1026-1034. Epub 2019 Aug 9.

Department of Histology Embryology and Cytogenetics, Necker-Enfants Malades Hospital, APHP, Paris, France.

Objective: Neural tube defects (NTDs) are one of the most common congenital anomalies caused by a complex interaction of many genetic and environmental factors. In about 10% of cases, NTDs are associated with genetic syndromes or chromosomal anomalies. Among these, SOX3 duplication has been reported in some isolated cases. The phenotype associated with this microduplication is variable and includes myelomeningocele (MMC) in both sexes as well as hypopituitarism and cognitive impairment in males. In order to determine the prevalence of this anomaly in fetuses with MMC, a retrospective cohort of fetuses with MMC was analyzed by quantitative PCR (qPCR) targeting SOX3 locus.

Methods: The detection of an SOX3 microduplication by chromosomal microarray analysis (CMA) in two female fetuses with MMC prompted us to analyze retrospectively by qPCR this gene in a cohort of 53 fetuses with MMC.

Results: In addition to our two initial cases, one fetus harboring an Xq27.1q28 duplication that encompasses the SOX3 gene was detected.

Conclusion: Our data demonstrate that SOX3 duplication is a genomic imbalance involved in the pathogenesis of NTDs. In addition, our survey highlights the importance of CMA testing in fetuses with NTDs to enable genetic counseling upstream of any considerations of in utero fetal surgery.

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.5523DOI Listing
October 2019
8 Reads

Publication Analysis

Top Keywords

fetuses mmc
12
sox3 duplication
12
tube defects
8
neural tube
8
cohort fetuses
8
sox3
6
fetuses
6
imbalance involved
4
mmc analyzed
4
mmc retrospective
4
genetic
4
genetic investigate
4
retrospective cohort
4
quantitative pcr
4
targeting sox3
4
sox3 locusmethods
4
qpcr targeting
4
genomic imbalance
4
anomaly fetuses
4
pcr qpcr
4

References

(Supplied by CrossRef)
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation
Allen RC et al.
Am J Hum Genet 1992

Similar Publications