Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.
Fragile X includes:
Fragile X Syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or “autistic-like” behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.
Fragile X-associated Primary Ovarian Insufficiency (FXPOI), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
Fragile X Syndrome
Fragile X syndrome is a genetic condition which is caused by a change in a gene that is inherited at the time of conception. This gene, called the FMR1 gene is found on the X chromosome. When this gene change occurs the FMR1 gene does not work properly. The FMR1 gene is responsible for making a protein that is important in brain development. Therefore when the gene is not working properly brain function including learning, behavior and communication is affected.
Characteristics of Fragile X syndrome can include:
- Attention problems
- Hand flapping
- Delayed development
- Long, narrow face
- Delayed speech
- Prominent ears & forehead
- Poor eye contact
- Large testicles
Note that physical features may not develop until puberty and that some individuals may not exhibit these characteristics.
To know more about Fragile X visit Fragilex.org