White-Sutton Syndrome

Excerpt

Clinical characteristics: White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.

Diagnosis/testing: The diagnosis of White-Sutton syndrome is established in a proband with suggestive findings and a heterozygous pathogenic variant in POGZ identified by molecular genetic testing.

Management: Treatment of manifestations: Developmental delay/intellectual disability, speech and language acquisition, behavioral issues, seizures, refractive errors and strabismus, hearing impairment, sleep disturbance, feeding and gastrointestinal issues, and genitourinary problems are managed by specialists per standard care.

Surveillance: Follow up of the common manifestations at each clinic visit.

Genetic counseling: White-Sutton syndrome is an autosomal dominant disorder typically caused by a de novo pathogenic variant. Most probands reported to date whose parents have undergone molecular genetic testing have the disorder as the result of a de novo POGZ pathogenic variant. Rarely, individuals with White-Sutton syndrome have the disorder as the result of a POGZ pathogenic variant inherited from a heterozygous parent with features such as developmental delay and/or mild intellectual disability. Once the POGZ pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.