SNP Shot: Genomic Insights

White-Sutton syndrome is a condition characterized by intellectual disability, distinctive facial characteristics, and various other signs and symptoms affecting different parts of the body. A common feature among those affected is the presence of traits associated with autism spectrum disorder (ASD), a diverse condition marked by challenges in social interaction, communication difficulties, and repetitive actions. However, in individuals with White-Sutton syndrome, these ASD-like features may be accompanied by other traits not typically seen in ASD, such as an unusually outgoing and friendly personality.

Individuals with White-Sutton syndrome exhibit developmental delays, with speech and language skills typically lagging behind motor skill development like walking. The degree of intellectual disability can vary significantly, ranging from borderline normal intelligence to severe impairment.

Many individuals with White-Sutton syndrome present with minor irregularities in the head and facial features. These may include an abnormally small head size (microcephaly), a broad and shortened skull (brachycephaly), widely spaced eyes (hypertelorism), a flattened or recessed mid-face area (midface hypoplasia), and a small mouth accompanied by a thin upper lip.

A broad spectrum of additional signs and symptoms can be associated with White-Sutton syndrome. Frequently observed characteristics include hyperactivity, sleep disturbances, visual impairments (particularly farsightedness), gastrointestinal issues, obesity, and a short stature. Some individuals with White-Sutton syndrome are born with a diaphragmatic hernia, a defect in the muscle separating the abdomen and chest.

Inheritance:

White-Sutton syndrome follows an autosomal dominant inheritance pattern. This means that having just one copy of the altered gene in each cell is enough to cause the condition. In the majority of cases, the condition arises spontaneously in individuals with no family history of the disorder. These cases are caused by new (de novo) mutations in the responsible gene, which occur either during the formation of eggs or sperm (reproductive cells) or in the early stages of embryonic development.