Intractable Rare Dis Res. 2015;4(4):198-202. (DOI: 10.5582/irdr.2015.01031)

Identification of a male with fragile X syndrome through newborn screening.

Famula J, Basuta K, Gane LW, Hagerman RJ, Tassone F


A pilot newborn screening (NBS) study for fragile X syndrome was recently conducted at the University of California, Davis Medical Center. The screening study identified a case of a male with the full mutation completely methylated and no detectable expression of the fragile X mental retardation-1 (FMR1) gene. The patient was initially seen in clinic at the MIND Institute, for medical follow-up and a genetic counseling session at the chronological age of 3 months. Since then, he has been seen in clinic every six months for follow up, medical examination and developmental assessments. Longitudinally administered developmental testing of the infant has revealed persistent delays in development, consistent with fragile X syndrome. Cascade testing revealed that the patient's mother and two siblings also have the full mutation. The patient has been receiving speech and language therapy, combined with physical and occupational therapies on a weekly basis since the age of one year. He is currently being treated with 2.5 mg of sertraline, which has been demonstrated to be helpful for improving language in young children with the syndrome.

KEYWORDS: FMR1 full mutation; trinucleotide repeat diseases; genetic counseling; cascade testing

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