Clinical utility gene card for: Mowat–Wilson syndrome

Abstract

1.5 Mutational spectrum 1. Large chromosome deletions, including the entire ZEB-2 gene and additional contiguous genes.2–7,13–25 2. Exon deletions. Both, complete or partial gene, deletions account for about 20% of cases.2–7,13–26 3. Loss-of-function gene mutations (truncating mutations, nonsense mutations, frameshift mutations) are detected in about 70% of cases.2–7,13–25,27 4. Missense variants are rare.2–7,14,28,29 5. A small proportion of patients (about 10%), who present with a clinical phenotype, highly consistent with MWS, have a negative genetic test. Atypical mutations can be considered in these cases, and the diagnosis can be confirmed clinically.2–7