Nat Genet. 1992 Aug;1(5):341-4.

Fragile X syndrome without CCG amplification has an FMR1 deletion.

Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GR, et al.

Source

Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.

Abstract

We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. We also found random X-inactivation in the mother of the patient who was shown to be a carrier of this deletion.

PMID:: 1302032; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

Libraries

LinkOut Holdings

Supplemental Content

Save items

Related citations in PubMed

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. [Am J Hum Genet. 1995]
An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.
Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW. Am J Hum Genet. 1995 May; 56(5):1042-51.
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. [Hum Mol Genet. 1994]
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA. Hum Mol Genet. 1994 Apr; 3(4):615-20.
A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features. [Genet Couns. 1994]
A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.
Wiegers AM, Curfs LM, Meijer H, Oostra B, Fryns JP. Genet Couns. 1994; 5(4):377-80.
Review Fragile X syndrome and deletions in FMR1: new case and review of the literature. [Am J Med Genet. 1997]
Review Fragile X syndrome and deletions in FMR1: new case and review of the literature.
Hammond LS, Macias MM, Tarleton JC, Shashidhar Pai G. Am J Med Genet. 1997 Nov 12; 72(4):430-4.
Review Complex behavior of simple repeats: the fragile X syndrome. [Pediatr Res. 1995]
Review Complex behavior of simple repeats: the fragile X syndrome.
Oostra BA, Halley DJ. Pediatr Res. 1995 Nov; 38(5):629-37.

See reviews... See all...

Cited by 32 PubMed Central articles

The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge. [Clin Biochem Rev. 2011]
The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.
Rousseau F, Labelle Y, Bussières J, Lindsay C. Clin Biochem Rev. 2011 Aug; 32(3):135-62.
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders. [J Neurodev Disord. 2011]
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders.
De Rubeis S, Bagni C. J Neurodev Disord. 2011 Sep; 3(3):257-69. Epub 2011 Aug 13.
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. [PLoS One. 2010]
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, Oostra B, Halley D, Zwick ME, Cutler DJ, Warren ST. PLoS One. 2010 Mar 5; 5(3):e9476. Epub 2010 Mar 5.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Fragile X syndrome without CCG amplification has an FMR1 deletion.
Fragile X syndrome without CCG amplification has an FMR1 deletion.
Nat Genet. 1992 Aug ;1(5):341-4.

PubMed
The conversion of citrate into cis-aconitate and isocitrate in the presence of a...
The conversion of citrate into cis-aconitate and isocitrate in the presence of aconitase.
Biochem J. 1952 Nov ;52(3):527-8.

PubMed
Thermoregulation and axillary temperature measurements in neonates: a review of ...
Thermoregulation and axillary temperature measurements in neonates: a review of the literature.
Matern Child Nurs J. 1992 Fall-Winter ;20(3-4):124-40.

PubMed
Mortality in the London fog incident, 1952.
Mortality in the London fog incident, 1952.
Lancet. 1953 Feb 14 ;1(6755):336-8.

PubMed
Methylation analysis of CGG sites in the CpG island of the human FMR1 gene.
Methylation analysis of CGG sites in the CpG island of the human FMR1 gene.
Hum Mol Genet. 1992 Nov ;1(8):571-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Fragile X syndrome without CCG amplification has an FMR1 deletion.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Libraries

Supplemental Content

Save items

Related citations in PubMed

Cited by 32 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information