A Novel Homozygous Frameshift Variant in the <i>FLVCR1</i> Gene Is Associated With Prenatal Microcephaly, Multiple Brain Structural Anomalies, and Abnormal Foot Posture
We present a fetus in which, during the second trimester, ultrasound examination revealed multiple structural brain abnormalities and abnormal foot posture. Trio whole-exome sequencing (trio-WES) identified a novel homozygous frameshift variant in the FLVCR1 gene (NM_014053.4: c.1393_1402delCTTCTTAATGinsAC, p.Leu465fs). To our knowledge, prenatal reports on FLVCR1 gene variants associated with neurodevelopmental disorder with microcephaly, absent speech, and hypotonia (NEDMISH) remain limited. This case expands the known prenatal phenotypic and genotypic spectrum associated with FLVCR1 gene variants.
Authors
- X. Chen (ORCID: https://orcid.org/0009-0001-1449-5628)
- Jing Chen (ORCID: https://orcid.org/0009-0002-8156-8572)
- Hongjing Wang (ORCID: https://orcid.org/0000-0002-6235-1231)
- Yuanyuan Xiao (ORCID: https://orcid.org/0009-0001-4899-8004)
Institutions
- Ministry of Education of the People's Republic of China (CN)
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1002/pd.70005
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00