[Analysis of a case with Mowat-Wilson syndrome due to nonsense variant of ZEB2 gene].

OBJECTIVE

To explore the genetic basis for a girl with distinctive facial features, epilepsy, intellectual disability, chronic constipation and hypopigmentation of neck and upper extremities.

METHODS

Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing.

RESULTS

The proband was found to harbor a heterozygous nonsense c.586G>T (p.Glu196*) variant of the ZEB2 gene, which was unreported previously. The variant was not detected in either parent.

CONCLUSION

The ZEB2 gene c.586G>T (p.Glu196*) variant probably underlay the Mowat-Wilson syndrome in this patient. Hypopigmentation in the neck and upper extremities may be related to Mowat-Wilson syndrome. Prenatal diagnosis was recommended for subsequent pregnancies.