A novel nonsense variant in MED12 associated with malformations in a female fetus

Abstract

Abstract Pathogenic variants in the MED12 gene located on the X‐chromosome have primarily been reported in males with Lujan‐Fryns syndrome, Ohdo syndrome and the Opits‐Kaveggia syndrome. However, earlier reports of female patients and female mice suggest that MED12 deficiency causes severe malformations. We report a novel example of a MED12 de novo nonsense variant in a female fetus with severe malformations identified by trio‐exome sequencing. This finding further expands the clinical spectrum of MED12‐related disorders, which is vital for prenatal diagnosis and genetic counselling of couples.

Keywords

• exome sequencing
• malformation
• MED12 deficiency
• prenatal diagnosis
• X‐linked