𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The fragile X phenotype in a mosaic male with a deletion showing expression of theFMR1 protein in 28% of the cells

✍ Scribed by de Graaff, Esther; de Vries, Bert B. A.; Willemsen, Rob; van Hemel, Jan O.; Mohkamsing, Serieta; Oostra, Ben A.; van den Ouweland, Ans M. W.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
790 KB
Volume
64
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

The instability of the CGG repeat region of F M R l is not restricted to the CGG repeat but expands to flanking sequences as well. A mosaic fragile X male is reported with a deletion of part of the CGG repeat and 30 bp immediately 3' of the repeat, thus confirming the presence of a hotspot for deletions in the CGG region of FMR1. The deletion, detected in 28% of his lymphocytes, did not impair the transcription and translation of F M R l , suggesting that regulatory elements are not present in the deleted region. The patient has the characteristic fragile X phenotype and assuming that the mosaic pattern detected in the lymphocytes reflects the mosaic pattern in brain, 28% expression of FMRP may not be sufficient for normal cognitive functioning.

πŸ“œ SIMILAR VOLUMES

Deletion of 8.5 Mb, including theFMR1 ge
Deletion of 8.5 Mb, including theFMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth
✍ Parvari, R.; Mumm, S.; Galil, A.; Manor, E.; Bar-David, Y.; Carmi, R. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 29 KB πŸ‘ 2 views

A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200

Segregation of the fragile X mutation fr
Segregation of the fragile X mutation from a male with a full mutation: Unusual somatic instability in the FMR-1 locus
✍ Kambouris, Marios; Snow, Karen; Thibodeau, Stephen; Bluhm, Denise; Green, Michae πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 469 KB πŸ‘ 1 views

Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an

Expression of CLMP, a novel tight juncti
Expression of CLMP, a novel tight junction protein, is mediated via the interaction of GATA with the kruppel family proteins, KLF4 and Sp1, in mouse TM4 sertoli cells
✍ Kit-Ling Sze; Will M. Lee; Wing-Yee Lui πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 457 KB

## Abstract Regulation of tight junction protein expressions in Sertoli cells is important for germ cell translocation across the blood‐testis‐barrier (BTB) during spermatogenesis. In this study, a novel tight junction transmembrane protein, CLMP, found expressed in mouse testis was shown to locali