Children's Mercy Hospitals and Clinics
Name
Mowat-Wilson Syndrome

Synonyms
ZFHX1B or ZEB2 Gene Analysis

CMH Lab Section
Molecular Genetics

Clinical Description
Mowat Wilson syndrome is a mental retardation syndrome associated with multiple malformations such as Hirschsprung disease, congenital heart defects, microphthalmia, agensis of the corpus callosum, and urogenital anomalies, in addition to a recognizable facial phenotype. Mowat Wilson syndrome is caused by defects in the ZEB2 gene (a.k.a SIP-1 or ZFHX1B).

Specimen Requirements
3-2 mL blood in lavender EDTA

Availability
Routine

Turn Around Time
4 weeks for exon 8 analysis;
an additional 4-8 weeks for full gene sequencing

Methodology
Testing is done in two steps, beginning with direct sequencing of exon 8 of the ZEB2 gene, where ~50% of mutations are reported. If the patient is negative for an exon 8 mutation, the remaining coding region is sequenced. Sequencing will detect ~80-85% of mutations in the ZEB2 gene. This is based on literature reports of ~15-20% of patients having large scale deletions or duplications that would not be detected by sequencing. For patients who test negative by sequencing, we offer MLPA for deletion analysis.

Ranges
See interpretative report

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