Which inheritance pattern is observed in Bloom Syndrome?

Bloom Syndrome is characterized by an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene—one from each parent—to express the condition. Bloom Syndrome is caused by mutations in the BLM gene, which acts as a helicase and is essential for maintaining genomic stability. When both copies of this gene are defective, it increases the risk for chromosomal instability, leading to the clinical features associated with the syndrome, such as growth deficiencies, sun-sensitive skin changes, and a predisposition to various cancers.

In contrast to Bloom Syndrome, other inheritance patterns, such as autosomal dominant or X-linked dominant, require only one mutated copy of a gene to express the condition, which does not apply here. Mitochondrial inheritance involves genes located in mitochondrial DNA, which is not the case for Bloom Syndrome either. Thus, understanding the mechanism of inheritance is crucial for genetic counseling, risk assessment, and awareness of potential health implications for individuals carrying mutations associated with this disorder.