About Fragile X Syndrome

1.Overview

Also known as fragile X syndrome.

It is designated as a national intractable disease. (Intractable Disease Information Center: http://www.nanbyou.or.jp/entry/4613)

It is caused by an abnormality in the X-chromosome gene in human cells.

The X chromosome is the sex chromosome; females generally have two (XX) and males have one (XY).

Most men with FXS have severe symptoms, while many women have mild symptoms.

The underlying symptoms are a distinctive physical appearance (elongated face, large ears, flat feet, large testicles) and developmental problems.

Developmental problems include intellectual disability and comorbidity of the autism spectrum, but there are large individual differences and the picture of the condition is diverse.

There are racial differences, and it is said that the incidence rate is lower in Asian races than in Caucasians. It seems that

2.Related diseases/disorders

Fragile X-related tremor/ataxia syndrome as a disease/disorder associated with FXS

(Fragile X-associated tremor/ataxia syndrome: FXTAS) and

Fragile X-related premature ovarian failure

(Fragile X-associated primary ovarian insufficiency: FXPOI).

FXTAS and FXPOI can appear with age even when other symptoms are absent or inconspicuous.

<Fragile X-associated primary ovarian insufficiency (FXPOI)>: Presents symptoms such as cessation of menstruation and anxiety before age 40.

<Fragile X-associated tremor/ataxia syndrome (FXTAS)>: After the age of 50, symptoms such as tremors, difficulty with motor function, and dementia appear.

3. Related links

・Intractable disease information centerhttp://www.nanbyou.or.jp/entry/4613

・Tottori University Research Promotion Organization Research Platform Centerhttp://fragile-x.med.tottori-u.ac.jp/3224/

・Department of Pediatric Genetics, Tokyo Medical Universityhttp://www.tokyo-med.ac.jp/genet/frax/fraxaj.html

・FRAXA Research Foundation https://www.fraxa.org/fraxa/

・National Fragile X Foundation https://fragilex.org/

Resource: Educational Guidelines for Children with Fragile X Syndrome

Educational Guidelines for Children with Fragile X Syndrome

Special thanks to the National Fragile X Foundation USA for allowing us to use and modify this information.