A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester
Wei‐Si Dai,
Yan‐Dong Yang,
Dong‐Zhi Li
Abstract:Trio exome sequencing was performed on a female fetus with an increased nuchal translucency, along with nasal bone hypoplasia, suspected cleft palate and abnormal outflow tract of the heart. A de novo heterozygous variant c.5500_5507del, p.(Tyr1834Argfs × 58) in the MED12 gene was detected. Loss‐of‐function variants in MED12 in females are associated with Hardikar syndrome (HS). A follow‐up ultrasound at 15+5 weeks of gestation identified multiple fetal anomalies including bilateral cleft lip and palate, diaph… Show more
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