Further Delineation of the De Santo Shinawi Syndrome Phenotype Using a Series of Individuals Carrying a Pathogenic Variant of the WAC Gene

Main objective :

Update clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.

Secondary objectives:

• Inventory the clinical signs of the syndrome described to date and look for recurrence between patients.
• Select a set of standardized clinical and paraclinical examinations for diagnosis.
• Establish appropriate management and follow-up.
• To compare the phenotype of patients with DESSH due to a pathogenic point variation in the WAC gene and those with a microdeletion involving the WAC gene.

Main inclusion criteria:

Children and adults of any age. Molecular diagnosis of a pathogenic variant involving the WAC gene (SNV, CNV, SV).

Main non-inclusion criteria:

Patients with a molecular diagnosis of another VP (SNV) of a gene responsible for a neurodevelopmental disorder.

Patient having already participated in a DESSH study with published data. No patient data available.

Primary endpoint:

The data collected will enable the investigators to meet the objective, namely to expand clinical and paraclinical knowledge of DeSanto-Shinawi syndrome.

Main secondary endpoints: NA (descriptive study) Statistics: NA (descriptive study)

Inclusion criteria

• Children and adults of any age.
• Molecular diagnosis of a pathogenic (or likely pathogenic) variant involving the WAC gene (SNV, CNV, SV).

Exclusion criteria

• Patients with a molecular diagnosis of another VP (SNV) of a gene responsible for a neurodevelopmental disorder.
• Patient having already participated in a DESSH study with published data.
• No patient data available.