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Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant |
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| Authors: | Jennifer Kidd Elizabeth Patberg Meghan McGath Berrin Monteleone Martin Chavez |
| Affiliation: | 1. Department of Obstetrics and Gynecology, NYU Langone Health – Long Island, Mineola, New York, USA;2. Obstetrix Medical Group of the Central Coast, Santa Barbara, California, USA;3. Division of Pediatrics, NYU Langone Health – Long Island, Mineola, New York, USA;4. NYU Long Island School of Medicine, Mineola, New York, USA Division of Clinical Genetics, NYU Langone Health – Long Island, Mineola, New York, USA;5. Department of Obstetrics and Gynecology, NYU Langone Health – Long Island, Mineola, New York, USA NYU Long Island School of Medicine, Mineola, New York, USA |
| Abstract: | 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. |
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