Edwin Reyniers

TL;DR: In this article, the authors designed a knockout model for the fragile X syndrome in mice and found that the knockout mice lack normal Fmr1 protein and show macroorchidism, learning deficits, and hyperactivity.

TL;DR: A knockout model for the fragile X syndrome in mice is designed and this knockout mouse may serve as a valuable tool in the elucidation of the physiological role of FMR1 and the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation.

TL;DR: The results suggest that mutations in FMR–1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.

TL;DR: The detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face is described.

TL;DR: Study of FMR–1 in sperm of four male fragile X patients showed that only the premutation was present in their sperm, although they had a full mutation in peripheral lymphocytes, which might suggest that expansion of the premutations to the full mutations in FMR-1 does not occur in meiosis but in a postzygotic stage.