Abstract
Fragile X syndrome, the most common inherited cause of mental retardation, is caused by an abnormal gene on the bottom end of the X chromosome. Discovered and sequenced in 1991, it is called the Fragile X Mental Retardation-1 (FMR-1) gene. Mutations in the FMR-1 gene include small expansions with a CGG (a specific sequence of the nucleotides) repetitive sequence that repeats from 50 to 200 times (the premutation) and the full mutation that involves a CGG repeat sequence that is greater than 200. In the full mutation, the FMR-1 gene is usually methylated, turning off the gene so that no protein is produced. Mutations within the FMR-1 gene can cause a spectrum of learning difficulties ranging from mild problems to severe mental retardation.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 416-424 |
| Number of pages | 9 |
| Journal | Developmental Psychology |
| Volume | 32 |
| Issue number | 3 |
| State | Published - May 1996 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Developmental and Educational Psychology
Cite this
Biomedical advances in developmental psychology : The case of fragile X syndrome. / Hagerman, Randi J.
In: Developmental Psychology, Vol. 32, No. 3, 05.1996, p. 416-424.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Biomedical advances in developmental psychology
T2 - The case of fragile X syndrome
AU - Hagerman, Randi J
PY - 1996/5
Y1 - 1996/5
N2 - Fragile X syndrome, the most common inherited cause of mental retardation, is caused by an abnormal gene on the bottom end of the X chromosome. Discovered and sequenced in 1991, it is called the Fragile X Mental Retardation-1 (FMR-1) gene. Mutations in the FMR-1 gene include small expansions with a CGG (a specific sequence of the nucleotides) repetitive sequence that repeats from 50 to 200 times (the premutation) and the full mutation that involves a CGG repeat sequence that is greater than 200. In the full mutation, the FMR-1 gene is usually methylated, turning off the gene so that no protein is produced. Mutations within the FMR-1 gene can cause a spectrum of learning difficulties ranging from mild problems to severe mental retardation.
AB - Fragile X syndrome, the most common inherited cause of mental retardation, is caused by an abnormal gene on the bottom end of the X chromosome. Discovered and sequenced in 1991, it is called the Fragile X Mental Retardation-1 (FMR-1) gene. Mutations in the FMR-1 gene include small expansions with a CGG (a specific sequence of the nucleotides) repetitive sequence that repeats from 50 to 200 times (the premutation) and the full mutation that involves a CGG repeat sequence that is greater than 200. In the full mutation, the FMR-1 gene is usually methylated, turning off the gene so that no protein is produced. Mutations within the FMR-1 gene can cause a spectrum of learning difficulties ranging from mild problems to severe mental retardation.
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UR - http://www.scopus.com/inward/citedby.url?scp=21344452734&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:21344452734
VL - 32
SP - 416
EP - 424
JO - Developmental Psychology
JF - Developmental Psychology
SN - 0012-1649
IS - 3
ER -