✦ LIBER ✦

Postmortem examination of two fragile X brothers with anFMR1 full mutation

✍ Scribed by Reyniers, Edwin; Martin, Jean-Jacques; Cras, Patrick; Van Marck, Eric; Handig, Ingrid; Jorens, Hugo Z.J.; Oostra, Ben A.; Kooy, R. Frank; Willems, Patrick J.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 19 KB
Volume: 84
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u

No coin nor oath required. For personal study only.

✦ Synopsis

Large expansions of the CGG repeat in the 5' untranslated region of the FMR1 gene are found in patients with the fragile X syndrome. Amplified CGG repeats in FMR1 are unstable and show intergenerational increase from mother to offspring. The exact timing of repeat amplification, however, is unknown. We have compared the extent of CGG expansion in various tissues of this deceased fragile X patient, and found only limited variation in repeat expansion. The repeat was fully methylated in all tissues examined. Therefore, no evidence for extensive mitotic expansion of the CGG repeat during fetal or postnatal life of a fragile X patient was found, in contrast to dynamic mutations caused by CAG/CTG repeat expansion. Extensive pathological examination of this patient and his affected brother revealed no evidence for specific abnormalities relevant to fragile X syndrome; cerebellar hypoplasia, which has been reported in this disorder, was not evident in either patient.

📜 SIMILAR VOLUMES

Nonrandom X inactivation and selection o

Nonrandom X inactivation and selection of fragile X full mutation in fetal fibroblasts

✍ Sun, Y.J.; Baumer, A. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

In the fragile X female carriers the degree of cognitive impairment appears to be correlated with activation status of the X chromosome bearing the expanded trinucleotide repeat in the promoter of the FMR1 gene. In this study we asked if the deviations from the primarily random pattern of X inactiva

Tissue heterogeneity of theFMR1 mutation

Tissue heterogeneity of theFMR1 mutation in a high-functioning male with fragile X syndrome

✍ Taylor, Annette K.; Tassone, Flora; Dyer, Pamela N.; Hersch, Steven M.; Harris, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

Few studies have been conducted comparing the FMR1 mutation in multiple tissues of individuals affected with fragile X syndrome. We report a postmortem study of the FMR1 mutation in multiple tissues from a high-functioning male with fragile X syndrome. This man was not mentally retarded and had only

Postmortem report: cultural examinations from postmodernity

✍ MacDonald, Kevin B.;Sunic, Tomislav 📂 Fiction 📅 2017 🏛 Arktos Media Ltd. 🌐 English ⚖ 157 KB 👁 1 views

"Along with his other published works, Tomislav Sunic is steadily turning his attention to a wide variety of topics affecting Europe's cultural and political heritage, including such sacred and less sacred cows, as liberalism, the artistic legacy of the Third Reich, the religion of multiculturalism,

Mosaicism for a full mutation and a norm

Mosaicism for a full mutation and a normal size allele in two fragile X males

✍ Schmucker, Beatrice; Seidel, J�rg 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

Confirmation of the clinical diagnosis of fragile X syndrome by molecular tests is based on both the presence of a full mutation and methylation of the promotor region of the FMR1 gene. The mechanism leading to mosaic alleles of repeat number and the role of methylation in this process is still unde

Strong similarities of theFMR1 mutation

✍ Tassone, Flora; Hagerman, Randi J.; Gane, Louise W.; Taylor, Annette K. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 1 views

Studies of the FMR1 mutation in multiple tissues are important to further our understanding of CGG repeat expansion in development and of the frequency and possible clinical significance of inter-tissue heterogeneity in fragile X syndrome. With some exceptions, most cases reported have shown strong

FMR1 gene expression in olfactory neurob

FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome

✍ Abrams, Michael T.; Kaufmann, Walter E.; Rousseau, Fran�ois; Oostra, Ben A.; Wol 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

The fragile X mental retardation 1 gene (FMR1) mutation is strongly correlated with specific and marked neurobehavioral and neuroanatomical abnormalities. The protein product, FMRP, is highly expressed in neurons of the normal mammalian brain, and absent or in low levels in leukocytes from individua