What is the inheritance pattern of Osler-Weber-Rendu syndrome?

What is the inheritance pattern of Osler-Weber-Rendu syndrome?

• A. Autosomally recessive
• B. X-linked dominant
• C. Autosomal dominant
• D. Y-linked

Answer: (C)

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene, inherited from an affected parent, is sufficient to express the disorder. The autosomal dominant inheritance pattern is characterized by the presence of the condition in successive generations, indicating that affected individuals have a 50% chance of passing the mutation to their offspring. The syndrome is associated with vascular malformations, causing issues such as nosebleeds, gastrointestinal bleeding, and arteriovenous malformations, which can lead to significant complications if not managed properly. Understanding this inheritance pattern is crucial for genetic counseling, predicting the recurrence risk in families, and assessing the need for monitoring and intervention based on the presence of the syndrome in family members.

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene, inherited from an affected parent, is sufficient to express the disorder.

The autosomal dominant inheritance pattern is characterized by the presence of the condition in successive generations, indicating that affected individuals have a 50% chance of passing the mutation to their offspring. The syndrome is associated with vascular malformations, causing issues such as nosebleeds, gastrointestinal bleeding, and arteriovenous malformations, which can lead to significant complications if not managed properly.

Understanding this inheritance pattern is crucial for genetic counseling, predicting the recurrence risk in families, and assessing the need for monitoring and intervention based on the presence of the syndrome in family members.