Article

A girl with fragile X premutation from sperm donation

MIND Institute, University of California-Davis Medical Center, Sacramento, California 95817, USA.
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 04/2008; 146(7):888-92. DOI: 10.1002/ajmg.a.31876
Source: PubMed

ABSTRACT

We present a girl with the fragile X premutation who obtained the premutation allele from donated sperm. Our patient has clinical characteristics of fragile X syndrome including emotional problems and neuropsychological difficulties presenting as learning disabilities. She is also at high risk for premature ovarian failure and low risk for the fragile X-associated tremor ataxia (FXTAS). We suggest fragile X DNA screening in gamete donor candidates to decrease the chance of fragile X involvement in their offspring.

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    • "In contrast, a few reports have documented lower verbal IQ scores among these women compared to female normal controls [44,58] or their male counterparts [59], with CGG repeat length explaining approximately 4% of the variance of verbal IQ per linear regression [44]. Case studies have shown mixed results as well, with low [60,61] and superior [62] IQ scores both observed in girls with the premutation. Myers and colleagues [63] examined 14 children (7 female) and found a trend towards lower performance IQ, a measure closely related to executive functioning. "
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    ABSTRACT: Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested.
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