Holt-Oram syndrome is categorized as which type of genetic inheritance?

Holt-Oram syndrome is categorized as which type of genetic inheritance?

• A. Autosomal Recessive
• B. Autosomal Dominant
• C. X-Linked Recessive
• D. Mitochondrial Inheritance

Answer: (B)

Holt-Oram syndrome is recognized for its inheritance pattern as an autosomal dominant condition. This means that only one copy of the mutated gene, inherited from either parent, is sufficient to cause the disorder. In the case of Holt-Oram syndrome, mutations typically occur in the TBX5 gene, which plays a crucial role in the development of the heart and upper limbs. Because of the autosomal dominant inheritance, affected individuals have a 50% chance of passing the condition onto each of their offspring, regardless of the child's sex. This inheritance mechanism accounts for the varied presentations of the syndrome, as it can express itself with different degrees of severity among family members. Understanding this pattern is essential in genetic counseling, as it helps assess risks for future generations and guides management and surveillance for associated anomalies, particularly congenital heart defects and upper limb malformations commonly seen in those with Holt-Oram syndrome.

Holt-Oram syndrome is recognized for its inheritance pattern as an autosomal dominant condition. This means that only one copy of the mutated gene, inherited from either parent, is sufficient to cause the disorder. In the case of Holt-Oram syndrome, mutations typically occur in the TBX5 gene, which plays a crucial role in the development of the heart and upper limbs.

Because of the autosomal dominant inheritance, affected individuals have a 50% chance of passing the condition onto each of their offspring, regardless of the child's sex. This inheritance mechanism accounts for the varied presentations of the syndrome, as it can express itself with different degrees of severity among family members.

Understanding this pattern is essential in genetic counseling, as it helps assess risks for future generations and guides management and surveillance for associated anomalies, particularly congenital heart defects and upper limb malformations commonly seen in those with Holt-Oram syndrome.