SNP Shot: Genomic Insights

Frasier syndrome is a genetic disorder impacting both the kidneys and the development of the reproductive system.

A hallmark of Frasier syndrome is kidney disease, specifically focal segmental glomerulosclerosis, which starts in early childhood. This condition involves the formation of scar tissue within the glomeruli – the kidney's blood-filtering units. This scarring often progresses to kidney failure, typically by adolescence.

Males with Frasier syndrome possess the typical male (46,XY) chromosome configuration, but exhibit gonadal dysgenesis. This means their external genitalia may be ambiguous (neither clearly male nor female) or appear entirely female. Internally, their reproductive organs (gonads) are usually underdeveloped, referred to as streak gonads. These non-functional gonads have a high risk of becoming cancerous and are generally surgically removed at a young age.

Females affected by Frasier syndrome usually have normal external and internal genitalia, presenting primarily with the kidney-related symptoms. Due to this incomplete presentation, they are often diagnosed with isolated nephrotic syndrome rather than Frasier syndrome.

Inheritance:

Frasier syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed in each cell to cause the disorder.