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Because of its location, the fragile X mutation leads to different health problems or different levels of disease severity in males and females Chromosome --+ Gene

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(that is, in carriers of the disease so far asymptomatic) have been described in ( MCX), which causes fragile X syndrome, more than 200 CGG repeats are 

[PDF] Fragile X Syndrome: Carrier Screening in the Prenatal Population

1 The disorder should be considered a significant health problem or carry a burden of disease 2 Diagnostic testing must be 

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30 jui 2015 · fragile X syndrome (FXS), fragile X-associated tremor/ataxia Females who are premutation carriers of the Fragile X gene mutation The full mutation (over 200 CGG repeats) causes the FMR1 gene to “turn off” and not work

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Fragile X Syndrome:

Carrier Screening in the Prenatal

PopulationFragile X Syndrome:

Fragile X Syndrome:

Carrier Screening in the Prenatal

Carrier Screening in the Prenatal

Population

Population

Thomas J. Musci, MDThomas J. Musci, MD

San Francisco Perinatal Associates

San Francisco Perinatal Associates

University of California

University of California

San Francisco, California

San Francisco, California

Fragile X SyndromeFragile X Syndrome

Why screen for fragile X carriers?

Who do we screen?¦

Current recommendations

Problems

Population-based screening?¦

Rationale

Cost-effectiveness

Challenges

Fragile X SyndromeFragile X Syndrome

The most common cause of inherited mental

retardation (MR).

Second only to Down syndrome as an etiology for

MR. Incidence of approximately 1 in 4000 males and 1 in

8000 females

Found among all ethnic groups and occurs in

families with no history of mental retardation

1 in 259 women are carriers of the fragile X

premutation¦ Only the mother has to be a carrier for the fetus to be at risk for fragile X syndrome

Fragile X SyndromeFragile X Syndrome

Males:¦

Moderate to severe mental

retardation, learning disabilities

Long face, prominent ears, macro-

orchidism

Physical phenotype can be subtle,

especially in young boys

Hyperactivity, autism (approx. 1/3),

hand flapping, hand biting, disordered speech and language males are generally unable to live independently http://www.nfxf.orghttp://www.nfxf.org

Fragile X SyndromeFragile X Syndrome

Females:¦

Less frequent and less severe in females

Mild to moderate mental retardation,

learning disabilities¡

About 1/3 of females have significant

intellectual disability.

Long face, prominent ears (more subtle in

females than in males)

Poor eye contact, attention problems,

shyness and social anxiety http://www.nfxf.orghttp://www.nfxf.org

A Spectrum of Clinical InvolvementA Spectrum of Clinical InvolvementA Spectrum of Clinical Involvement

http://www.nfxf.orghttp://www.nfxf.org

FMR-1 gene: a triplet repeat disease

Stable allele

Unstable allele

Premutation

Expansion to full mutation

Absence of FMR-1 protein

Abnormal methylation of FMR-1 gene

n < 45 55
n 200
n 200
(CGG) n

Risk of Premutation Expansion:

size of repeat and gender

Maternal Repeat

Size % Of Offspring

With a Full Mutation

55-59
3.7% 60-69
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