Hum Genet. 1991 Apr;86(6):604-6.

Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.

Archidiacono N, Lerone M, Rocchi M, Anvret M, Ozcelik T, Francke U, Romeo G.

Source

Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Italy.

Abstract

The hypothesis of germinal mosaicism in the unaffected mother of two half-sisters affected with Rett syndrome is postulated to explain the unusual recurrence of this genetic disorder affecting only females (1/10,000); it might be caused by new X-linked mutations with lethality in male fetuses. The analysis of 34 X-linked restriction fragment length polymorphisms (RFLPs) in these two affected females and in their unaffected mother and half-brother, together with the reconstruction of phase for 15 informative RFLPs in somatic cell hybrids retaining a single X chromosome from each female, has made it possible to exclude some regions of the X chromosome as possible sites of the mutation(s) causing Rett syndrome.

PMID:: 1673961; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

LinkOut - more resources

Full Text Sources

EBSCO

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. [Am J Hum Genet. 1997]
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.
Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U. Am J Hum Genet. 1997 Sep; 61(3):634-41.
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. [Am J Hum Genet. 1992]
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.
Ellison KA, Fill CP, Terwilliger J, DeGennaro LJ, Martin-Gallardo A, Anvret M, Percy AK, Ott J, Zoghbi H. Am J Hum Genet. 1992 Feb; 50(2):278-87.
Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations. [Am J Med Genet Suppl. 1986]
Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations.
Romeo G, Archidiacono N, Ferlini A, Rocchi M. Am J Med Genet Suppl. 1986; 1:355-9.
Review [Genetic basis for Rett disease]. [Postepy Hig Med Dosw. 1997]
Review [Genetic basis for Rett disease].
Midro AT, Panasiuk B. Postepy Hig Med Dosw. 1997; 51(4):399-419.
Review Molecular approaches to the Rett syndrome gene. [J Child Neurol. 1999]
Review Molecular approaches to the Rett syndrome gene.
Schanen NC. J Child Neurol. 1999 Dec; 14(12):806-14.

See reviews... See all...

Cited by 6 PubMed Central articles

Review MicroRNAs in psychiatric and neurodevelopmental disorders. [Brain Res. 2010]
Review MicroRNAs in psychiatric and neurodevelopmental disorders.
Xu B, Karayiorgou M, Gogos JA. Brain Res. 2010 Jun 18; 1338:78-88. Epub 2010 Apr 10.
Review Rett syndrome and MeCP2: linking epigenetics and neuronal function. [Am J Hum Genet. 2002]
Review Rett syndrome and MeCP2: linking epigenetics and neuronal function.
Shahbazian MD, Zoghbi HY. Am J Hum Genet. 2002 Dec; 71(6):1259-72. Epub 2002 Nov 19.
Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. [J Med Genet. 1998]
Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.
Webb T, Clarke A, Hanefeld F, Pereira JL, Rosenbloom L, Woods CG. J Med Genet. 1998 Dec; 35(12):997-1003.

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.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism ...
Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.
Hum Genet. 1991 Apr ;86(6):604-6.

PubMed
Isolation of nuclear proteins.
Isolation of nuclear proteins.
Methods Mol Biol. 2006 ;323:393-402.

PubMed
DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible assoc...
DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels.
Hum Genet. 1991 Apr ;86(6):578-84.

PubMed
EMS mutagenesis of Arabidopsis.
EMS mutagenesis of Arabidopsis.
Methods Mol Biol. 2006 ;323:101-3.

PubMed
Polymorphism in a ferritin H gene from chromosome 6p.
Polymorphism in a ferritin H gene from chromosome 6p.
Hum Genet. 1991 Apr ;86(6):557-61.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: