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

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.

SUBMITTER: Faergeman SL 

PROVIDER: S-EPMC8693823 | biostudies-literature |

REPOSITORIES: biostudies-literature