Fragile X syndrome. From Genetics Home Reference. Description Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Frequency Fragile X syndrome occurs in approximately 1 in 4, males and 1 in 8, females. Inheritance Fragile X syndrome is inherited in an X-linked dominant pattern.
Research Studies from ClinicalTrials. Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach.
J Child Psychol Psychiatry. Nat Rev Dis Primers. FMR1 Disorders. Lancet Neurol. Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Res Rev. Epub Jul Fragile X syndrome and associated disorders: Clinical aspects and pathology. Out of these, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website.
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In addition to ankyrin-G, Usp9x also protects several other important synapse-enhancing proteins, which when mutated also cause intellectual disability and autism. Usp9x is a master-stabilizer of many key proteins essential for brain development and learning. It is notable that severe mutations in ankyrin-G are also known to cause intellectual disability and autism. Or, if a person inherits a less severe form of the mutation in ankyrin-G, their synapses develop relatively normally in childhood.
But during adolescence — when there is a big turnover of synapses as the brain matures — more of these vital neuron connectors are lost than normal. The result can be schizophrenia and bipolar disease.
This mechanism is called NatA-mediated N-terminal acetylation. Lyon was made aware of the first individual with what he calls "NAArelated disorder" by clinical geneticist Wendy Chung at Columbia University. She and colleagues had published a paper in which they described a boy with a mutation in NAA15 who had congenital heart defects as well as developmental delays and intellectual disability.
Lyon and colleagues have since collected referrals from clinicians around the world that have identified a total of 37 individuals in 32 families with a mutation in NAA They include both men and women, as the NAA15 gene is not located on the X chromosome.
Holly Stressman of Creighton University and Dr. Lyon expects that many more disorders caused by rare mutations like NAA15 will be discovered. Funding: U. Materials provided by Cold Spring Harbor Laboratory. Note: Content may be edited for style and length.
Science News.
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