Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
revised:
11
07
2023
received:
17
04
2023
accepted:
21
07
2023
medline:
15
8
2023
pubmed:
2
8
2023
entrez:
2
8
2023
Statut:
ppublish
Résumé
A 26 year old nulligravida presented at 24 weeks gestation for the second opinion of abnormal fetal profile and mid-face views on ultrasound at another institution. A detailed fetal anatomic ultrasound at our facility revealed the absence of fetal lens and globes bilaterally consistent with bilateral anophthalmia (HP: 0000528) without other anomalies. Karyotype and chromosomal microarray analysis were completed from amniocentesis sample. After these results, duo exome testing with paternal sequencing was completed from proband amniotic fluid sample and parental blood samples. A pathogenic variant in SOX2 (NM_003106.3: c.513C>G p.(Tyr171*Ter)) with heterozygous autosomal dominant inheritance resulted. On duo exome testing with paternal segregation analysis, the variant was found to be consistent with likely sporadic de novo inheritance. The SOX2 variant reported is consistent with the fetal phenotype in this case. While germline mosaicism could exist, this identified variant provided the family with a likely explanation for this proband's finding. This ultrasound and genetic testing allowed the family to make decisions related to planning in current and future pregnancies.
Substances chimiques
SOX2 protein, human
0
SOXB1 Transcription Factors
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1251-1254Informations de copyright
© 2023 John Wiley & Sons Ltd.
Références
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Varejão AM, Pestana I. Prenatal diagnosis of isolated bilateral anophthalmia. BMJ Case Rep. 2021;14(8):e244684. https://doi.org/10.1136/bcr-2021-244684
Chassaing N, Causse A, Vigouroux A, et al. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Clin Genet. 2014;86(4):326-334. https://doi.org/10.1111/cge.12275
Williamson KA, Yates TM, FitzPatrick DR. SOX2 disorder. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. University of Washington; 1993. 2006 [Updated 2020 Jul 30]. https://www.ncbi.nlm.nih.gov/books/NBK1300/