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SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects
Author(s) -
Hureaux Marguerite,
Ben Miled Selima,
Chatron Nicolas,
Coussement Aurelie,
Bessières Bettina,
Egloff Matthieu,
Mechler Charlotte,
Stirnemann Julien,
Tsatsaris Vassilis,
Barcia Giulia,
Turleau Catherine,
Ville Yves,
EnchaRazavi Ferechte,
AttieBitach Tania,
Malan Valérie
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5523
Subject(s) - gene duplication , neural tube , fetus , prenatal diagnosis , fetal surgery , neural tube defect , biology , in utero , retrospective cohort study , cohort , locus (genetics) , medicine , genetics , pathology , pregnancy , gene , embryo
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.