SNP Shot: Genomic Insights

Griscelli syndrome is a genetic disorder present from infancy, marked by abnormally pale skin (hypopigmentation) and light silvery-gray hair. Scientists have classified the condition into three types, differentiated by their specific genetic causes and the particular symptoms they present.

Griscelli syndrome type 1, besides the characteristic skin and hair color, also leads to significant brain-related issues. Those affected usually experience developmental delays, intellectual disability, seizures, reduced muscle strength (hypotonia), and problems with their eyes and vision. A similar condition, Elejalde disease, shares many of these symptoms, leading some scientists to suggest that Griscelli syndrome type 1 and Elejalde disease may be the same condition.

In addition to pale skin and hair, individuals with Griscelli syndrome type 2 have problems with their immune system. They are susceptible to frequent infections and can develop hemophagocytic lymphohistiocytosis (HLH), a condition where the immune system creates an excessive amount of activated T-lymphocytes and macrophages (histiocytes). This overactivity can harm various organs and tissues throughout the body, potentially causing life-threatening problems if left untreated. Unlike type 1, Griscelli syndrome type 2 does not involve neurological issues.

Griscelli syndrome type 3 is characterized solely by abnormally light skin and hair. Individuals with this type do not have neurological or immune system complications.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, each carrying only one copy of the mutated gene, are typically healthy and do not exhibit symptoms of the syndrome.