Which disorder is autosomal dominant and linked to mutations in TSC1 on chromosome 9 or TSC2 on chromosome 16?

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Multiple Choice

Which disorder is autosomal dominant and linked to mutations in TSC1 on chromosome 9 or TSC2 on chromosome 16?

Tuberous sclerosis is an autosomal dominant neurocutaneous disorder caused by mutations in TSC1 on chromosome 9 or TSC2 on chromosome 16. The TSC1/TSC2 gene products, hamartin and tuberin, form a complex that inhibits the mTOR pathway, which regulates cell growth. When these genes are mutated, the inhibition of mTOR is lost, leading to unchecked cell proliferation and the development of multiple hamartomas in the brain, skin, kidneys, heart, and other organs. Clinically, this results in features such as seizures, cognitive impairment, autism spectrum features, and distinctive skin findings. The autosomal dominant inheritance means one mutated allele can cause the condition, with variable expression among individuals. The other options describe conditions with different genetic bases and presentations (for example, NF1 involves the neurofibromin gene; Sturge-Weber is a sporadic vascular brain malformation; Dandy-Walker is a cerebellar malformation).

Tuberous sclerosis is an autosomal dominant neurocutaneous disorder caused by mutations in TSC1 on chromosome 9 or TSC2 on chromosome 16. The TSC1/TSC2 gene products, hamartin and tuberin, form a complex that inhibits the mTOR pathway, which regulates cell growth. When these genes are mutated, the inhibition of mTOR is lost, leading to unchecked cell proliferation and the development of multiple hamartomas in the brain, skin, kidneys, heart, and other organs. Clinically, this results in features such as seizures, cognitive impairment, autism spectrum features, and distinctive skin findings. The autosomal dominant inheritance means one mutated allele can cause the condition, with variable expression among individuals. The other options describe conditions with different genetic bases and presentations (for example, NF1 involves the neurofibromin gene; Sturge-Weber is a sporadic vascular brain malformation; Dandy-Walker is a cerebellar malformation).

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