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5 votes
Which gene is primarily responsible for CHARGE syndrome?

a) CHD7
b) BRCA1
c) CFTR
d) TP53

1 Answer

6 votes

Final answer:

The gene primarily responsible for CHARGE syndrome is the CHD7 gene, which provides instructions for making a protein involved in the development and function of various tissues and organs in the body.

Step-by-step explanation:

The gene primarily responsible for CHARGE syndrome is the CHD7 gene.

CHARGE syndrome is a genetic disorder that affects multiple organs and systems in the body. It is caused by mutations in the CHD7 gene, which provides instructions for making a protein involved in the development and function of various tissues and organs, including the brain, eyes, ears, heart, and genitals.

Severe mutations in the CHD7 gene can lead to the characteristic features of CHARGE syndrome, such as hearing loss, vision problems, heart defects, and delayed development. However, not all individuals with CHARGE syndrome have mutations in the CHD7 gene, suggesting that other genetic and environmental factors may also play a role.

User Kirill Lykov
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