<i>SOX3</i> duplication: A genetic cause to investigate in fetuses with neural tube defects

Hureaux, Marguerite; Miled, S. Ben; Chatron, Nicolas; Coussement, A.; Bessières, Bettina; Egloff, M.; Mechler, Charlotte; Stirnemann, J.; Tsatsaris, Vassilis; Barcia, Giulia; Turleau, C; Ville, Y.; Encha‐Razavi, Férechté; Attié‐Bitach, Tania; Malan, Valérie

doi:10.1002/pd.5523

Cited by 17 publications

(19 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Among the analysed cases, the patient 3, a 12 years old boy with isolated GDD/ID, presents a 7.4 Mb duplication of X chromosome, including more OMIM genes, SOX3 being a known morbid gene, coding for a transcription factor implicated in neurogenesis, which is associated with mental retardation, X-linked, with isolated growth hormone de ciency. The patient presented a GDD/ID, same as other cases described in literature, but not short stature and GH de ciency (12,13,14,15). CNV was interpreted as pathogenic CNVs.…”

Section: Discussionsupporting

confidence: 60%

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Miclea

Osan

Bucerzan

et al. 2021

Preprint

View full text Add to dashboard Cite

Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population and more and more often the genetic etiology is proven. The aim of this study was to determine the clinically relevant copy number variants in patients diagnosed with global developmental delay/intellectual disability in our population, using the technology SNP array. Material and methods. We analyzed 189 patients diagnosed with GDD//ID, presented in Clinical Emergency Hospital for Children Cluj-Napoca. The patients were completely clinically investigated, including dysmorphic evaluation, internal malformation evaluation, psychiatric and neuropsychological examinations, metabolic evaluation, standard karyotyping. Genomic analysis was done using SNP array technique. Results. 50/189 patients (26.45%) presented pathogenic CNVs and uniparental disomy (32/189 patients, 16.93%) or VOUS (variants of unknown significance) (18/189 patients, 9.52%). Two patients presented uniparental disomy of chromosome 15, one with clinical phenotype of Prader-Willi syndrome and the other with clinical phenotype with Angelman syndrome. The recurrent pathogenic CNVs were seen in 18/32 patients (56%) with pathogenic findings (CNVs or uniparental disomy). Conclusions. These data encouraged to continue using a microarray genetic testing as useful test for the diagnostic performance together with other new tools as exome or genome sequencing for a global genome view in diseases which have not a specific phenotype, such as intellectual disability.

show abstract

Section: Discussionsupporting

confidence: 60%

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Miclea

Osan

Bucerzan

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…21 Regarding the specific involvement of genes, SOX3 duplication has been recently associated with neural tube defects. 28,29 In our series we found SOX3 duplication in a male fetus affected with spina bifida.…”

Section: Results In the Context Of What Is Knownmentioning

confidence: 49%

“…On the other way to report prenatally all the variants could generate anxiety in the parents and physicians in those cases in which it has to be decided about the future of an unborn child, in a moment in which is not possible to confirm exactly the phenotype 21 . Regarding the specific involvement of genes, SOX3 duplication has been recently associated with neural tube defects 28,29 . In our series we found SOX3 duplication in a male fetus affected with spina bifida.…”

Section: Discussionmentioning

confidence: 73%

Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital

et al. 2020

View full text Add to dashboard Cite

OBJECTIVES To evaluate the prevalence of DNA copy number variants (CNVs) detected with array comparative genomic hybridization (CGH) in fetuses with central nervous system (CNS) anomalies. Secondary objectives were to describe the prevalence of CNV in specific CNS abnormalities, in isolated defects or associated with other malformations or fetal growth restriction (FGR). METHODS Observational cohort study in 238 fetuses with CNS anomalies in which an array‐CGH had been performed between January 2009 and December 2017. Pathogenic CNV and variants of unknown significance (VUS) were reported. RESULTS Pathogenic CNVs were found in 16/238 cases (6.7%), VUS in 18/238 (7.6%), and normal result in 204/238 (85.7%) cases. Pathogenic CNVs were more frequent in posterior fossa anomalies (cerebellar hypoplasia 33%, megacisterna magna 20%), moderate ventriculomegaly (11%) and spina bifida (3.7%). Pathogenic CNVs and VUS were found in 7/182 (3.8%) and 14/182 (7.7%) cases of isolated anomalies, in 9/49 (18.4%) and 4/49 (8.2%) presenting another malformation, and in 0/7 and 0/7 cases with associated FGR (P = .001, P = .741, respectively). CONCLUSION These results provide strong evidence toward performing array in fetuses with CNS anomalies, particular in cases of posterior fossa anomalies. The prevalence of pathogenic CNVs is higher in association with other malformations.

show abstract

“…The Xq27.1 duplication encompassing SOX3 has been implicated in the etiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. ( Hureaux et al, 2019 , Bauters et al, 2014 , Uguen et al, 2015 , Arya et al, 2019 ).…”

Section: Resultsmentioning

confidence: 99%

Maternal folic acid and multivitamin supplementation: International clinical evidence with considerations for the prevention of folate-sensitive birth defects

Wilson

O'Connor

2021

Preventive Medicine Reports

View full text Add to dashboard Cite

More evidence is available for maternal intake, absorption, distribution, tissue specific concentrations, and pregnancy outcomes with folic acid (fortification/supplementation) during preconception – first trimester. This Quality Improvement prevention review used expert guidelines/opinions, systematic reviews, randomized control trials/controlled clinical trials, and observational case control/case series studies, published in English, from 1990 to August 2021. Optimization for an oral maternal folic acid supplementation is difficult because it relies on folic acid dose, type of folate supplement, bio-availability of the folate from foods, timing of supplementation initiation, maternal metabolism/genetic factors, and many other factors. There is continued use of high dose pre-food fortification ‘RCT evidenced-based’ folic acid supplementation for NTD recurrence pregnancy prevention. Innovation requires preconception and pregnancy use of ‘carbon one nutrient’ supplements (folic acid, vitamin B12, B6, choline), using the appropriate evidence, need to be considered. The consideration and adoption of directed personalized approaches for maternal complex risk could use serum folate testing for supplementation dosing choice. Routine daily folic acid dosing for low-risk women should consider a multivitamin with 0.4 mg of folic acid starting 3 months prior to conception until completion of breastfeeding. Routine folic acid dosing or preconception measurement of maternal serum folate (after 4–6 weeks of folate supplementation) could be considered for maternal complex risk group with genetic/medical/surgical co-morbidities. These new approaches for folic acid oral supplementation are required to optimize benefit (decreasing folate sensitive congenital anomalies; childhood morbidity) and minimizing potential maternal and childhood risk.

show abstract

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

Cited by 17 publications

References 29 publications

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8‐year long observational study from a tertiary care university hospital

Maternal folic acid and multivitamin supplementation: International clinical evidence with considerations for the prevention of folate-sensitive birth defects

Contact Info

Product

Resources

About