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Broad Clinical Involvement in a Family Affected by the Fragile X Premutation

Chonchaiya, Weerasak MD*†; Utari, Agustini MD*‡; Pereira, Gabriela Marques MD§; Tassone, Flora PhD*∥; Hessl, David PhD; Hagerman, Randi J. MD***

Journal of Developmental & Behavioral Pediatrics: December 2009 - Volume 30 - Issue 6 - p 544-551
doi: 10.1097/DBP.0b013e3181c35f25
Case Report

The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, and other problems associated with the premutation, such as hypothyroidism, hypertension, neuropathy, anxiety, depression, attention-deficit hyperactivity disorders, and autism spectrum disorders. The premutation is relatively common in the general population affecting 1 of 130 to 250 female individuals and 1 of 250 to 800 male individuals. Therefore, to provide appropriate treatment and genetic counseling for all of the carriers and affected individuals in a family, a detailed family history that reviews many of the disorders that are related to both the premutation and the full mutation should be carried out as exemplified in these cases. To facilitate the integration of this knowledge into clinical practice, this is the first case report that demonstrates only premutation involvement across 3 generations.

From the *M.I.N.D. Institute, University of California-Davis Medical Center, Sacramento, CA; †Division of Growth and Development, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; ‡Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia; §Department of Pediatrics, São Marcos Hospital, Braga, Portugal; ∥Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA; ¶Departments of Psychiatry and Behavioral Sciences and **Pediatrics, University of California-Davis Medical Center, Sacramento, CA.

Received July 13, 2009; accepted September 11, 2009.

This work was supported by grants from NICHD HD036071, HD02274, NIA AG032115, NIMH 77554, NCRR DE019683, DA024854, and the Health and Human Services Administration of Developmental Disabilities grant 90DD0596.

Address for reprints: Randi J. Hagerman, MD, M.I.N.D. Institute, UC Davis Health System, 2825 50th Street, Sacramento, CA 95817; e-mail:

© 2009 Lippincott Williams & Wilkins, Inc.