Fragile X syndrome

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Most common forms of DNA variation in the human genome are –

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1. Single-nucleotide polymorphisms (SNPs)
2. Copy number variations (CNVs)

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Most prevalent inherited cause of intellectual disability –

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Fragile X syndrome – Inheritable

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Most common genetic [chromosome abnormality] cause of intellectual disability-

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Down’s syndrome

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Fragile X syndrome is also called –

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Martin-Bell syndrome

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Fragile X syndrome is caused by mutation in

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FMR1 gene.

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FMR1 is a gene located on the X chromosome

FMR1 gene – produces a protein called FMRP

FMRP needed for proper cell function

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