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A Novel Homozygous Frameshift Variant in the FLVCR1 Gene Is Associated With Prenatal Microcephaly, Multiple Brain
Jing Chen1,2, Hongjing Wang2,3, Xin Chen2,4
1Department of Medical Genetic/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, China.
Abstract:
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.
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