Fragile X Syndrome and Carriers
Contact:
Genetic Counseling Clinic, the Genetic Institute: 03-5302826, 03-5303060
Dedicated Women's Clinic for Fragile X Carriers, IVF unit: 03-5304868
Email: xshavir@sheba.health.gov.il
Children's Endocrinology Clinic, Edmond and Lily Safra Children's Hospital: 03-5305015
Adult Endocrinology Clinic, Endocrine Institute: 03-5305470
FXTAS Clinic, Institute of Movement Disorders: 03-5305293, 03-5305864
Clinic for Children with Fragile X Syndrome, Child Development Institute: 03-5302592
Sheba's multidisciplinary centre stands as a pioneering institution in Israel and the world, dedicated to addressing the needs of individuals carrying Fragile X Syndrome.
Fragile X Syndrome is the most common cause of severe developmental disability and autism on a hereditary basis. This occurs when there is a mutation in the gene called FMR1, which means there are more than 200 copies/repeats of (CGG) found on the X chromosome. The carrier mother passes on the abnormal gene to her offspring, which is why women undergo the test free of charge before pregnancy.
If the mother carries the abnormal gene, she has two ways to prevent its transmission:
Prior to pregnancy, individuals identified as carriers have the option to undergo in vitro fertilization (IVF) treatments. During this process, preimplantation genetic diagnosis (PGD) can be conducted on the embryos.
During pregnancy, genetic testing methods such as placental smear or amniocentesis can be perforemed to assess the chromosomal integrity of the fetus.
Apart from the risk of giving birth to a child with the syndrome, both male and female carriers themselves (with 58-199 copies of CGG) also face health consequences:
A significant decline in fertility is observed, with approximately 35% of pregnant women experiencing premature menopause (cessation of menstruation before the age of 40), and approximately 20% may experience a decline in ovarian function from their late teens.
Learning disabilities, especially ADHD and arithmetic (dyscalculia) - especially in women.
Endocrine disorders, including growth issues, thyroid dysfunction and menstrual disorders are more common in carriers.
Disturbance in balance together with a decline in memory from the fifth to the seventh decade of life, a condition known as FXTAS - Fragile X Tremor-ataxia Syndrome, primarily in in carriers.
Given that Fragile X is a hereditary condition, it is advisable to perform a genetic test on other relatives within the family if a diagnosis has been made. Identifying additional carriers early on enables effective family planning counseling and the possible preservation of fertility.
The Sheba Medical Center houses a dedicated clinic, the first in Israel and the world, that specializes in providing counseling and treatment for Fragile X Syndrome carriers.
