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June 23/30, 2004

Genetic Counseling for Families of Patients With Fragile X Syndrome

Author Affiliations

Letters Section Editor: Stephen J. Lurie, MD, PhD, Senior Editor.

JAMA. 2004;291(24):2945. doi:10.1001/jama.291.24.2945-a

To the Editor: Dr Jacquemont and colleagues1 reported that male carriers of premutation alleles of the FMR1 gene are at risk of developing fragile X–associated tremor/ataxia syndrome (FXTAS). We are concerned that the authors did not discuss genetic counseling in the process of testing these individuals, which raises several ethical issues. First, when a male carrier passes on his deleterious allele (on the X chromosome) to his daughters, they become obligate carriers of the premutation. By identifying a man with FXTAS, his daughters are necessarily identified as FMR1 premutation carriers. As the authors stated, not only is the CGG repeat prone to expansion when passed through the female (thus the risk of fragile X syndrome in her offspring), but approximately 20% of women with FMR1 premutations will also experience premature ovarian failure. Although this may be very valuable family planning information for those daughters, we are troubled with the concept of diagnosing female offspring with a deleterious allele without considering these implications or potentially without their knowledge.

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