Literature DB >> 7943018

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

Y Trottier1, G Imbert, A Poustka, J P Fryns, J L Mandel.   

Abstract

We report on a patient with moderate mental retardation and a typical fragile X phenotype, with no family history and no fragile X site on cytogenetic analysis. The patient was found to have a deletion encompassing part of the FMR1 gene and a 70-100 kb region upstream of the FMR1 promotor region. This deletion is smaller than those previously reported and confirms that FMR1 is the major and probably the only gene implicated in the phenotype of the fragile X syndrome.

Entities:  

Mesh：

Year:  1994        PMID： 7943018     DOI： 10.1002/ajmg.1320510431

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  12 in total

Review 1.  Mutation spectra in fragile X syndrome induced by deletions of CGG*CCG repeats.

Authors:  Robert D Wells
Journal:  J Biol Chem       Date:  2008-10-28       Impact factor: 5.157

2.  Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.

Authors:  Sandesh C S Nagamani; Ayelet Erez; Frank J Probst; Patricia Bader; Patricia Evans; Linda A Baker; Ping Fang; Terry Bertin; Patricia Hixson; Pawel Stankiewicz; David Nelson; Ankita Patel; Sau Wai Cheung
Journal:  Neurogenetics       Date:  2012-08-14       Impact factor: 2.660

3.  A MicroRNA Profile in Fmr1 Knockout Mice Reveals MicroRNA Expression Alterations with Possible Roles in Fragile X Syndrome.

Authors:  Ting Liu; Rui-Ping Wan; Ling-Jia Tang; Shu-Jing Liu; Hai-Jun Li; Qi-Hua Zhao; Wei-Ping Liao; Xiao-Fang Sun; Yong-Hong Yi; Yue-Sheng Long
Journal:  Mol Neurobiol       Date:  2014-06-07       Impact factor: 5.590

4.  Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Authors:  K Grønskov; H Hjalgrim; M O Bjerager; K Brøndum-Nielsen
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

5.  A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication.

Authors:  R S Hansen; T K Canfield; A D Fjeld; S Mumm; C D Laird; S M Gartler
Journal:  Proc Natl Acad Sci U S A       Date:  1997-04-29       Impact factor: 11.205

Review 6.  Fruit flies and intellectual disability.

Authors:  François V Bolduc; Tim Tully
Journal:  Fly (Austin)       Date:  2009-01-12       Impact factor: 2.160

7.  Fragile x mental retardation 1 and filamin a interact genetically in Drosophila long-term memory.

Authors:  François V Bolduc; Kimberly Bell; Cory Rosenfelt; Hilary Cox; Tim Tully
Journal:  Front Neural Circuits       Date:  2010-01-08       Impact factor: 3.492

Review 8.  Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Authors:  Bradford Coffee; Morna Ikeda; Dejan B Budimirovic; Lawrence N Hjelm; Walter E Kaufmann; Stephen T Warren
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

9.  Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

Authors:  A K Gedeon; M Meinänen; L C Adès; H Kääriäinen; J Gécz; E Baker; G R Sutherland; J C Mulley
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

Review 10.  The fragile X syndrome.

Authors:  B B de Vries; D J Halley; B A Oostra; M F Niermeijer
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318
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