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Chapter: Pathology: Genetic Disorders

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Triplet Repeat Mutations

Fragile X syndrome is due to triplet nucleotide repeat mutations, so that the nucleo-tide sequence CGG repeats typically hundreds to thousands of times.

TRIPLET REPEAT MUTATIONS

Fragile X syndrome is due to triplet nucleotide repeat mutations, so that the nucleo-tide sequence CGG repeats typically hundreds to thousands of times. The mutation occurs in the FMR-1 gene (fragile X mental retardation-1) on the X chromosome (Xq27.3), and the disease behaves as an X-linked dominant disease that causes intel-lectual disability in all affected males and 50% of female carriers. The characteristic phenotype includes elongated face with a large jaw, large everted ears, and macroor-chidism. The condition can be diagnosed with DNA probe analysis.

Huntington disease is due to a triplet repeat mutation (CAG) of theHTTgene thatproduces an abnormal protein (huntingtin), which is neurotoxic and causes atrophy of the caudate nucleus. Huntington disease has an early onset (age range: 20–50 years) of progressive dementia with choreiform movements.

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