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Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

Identifieur interne : 000754 ( Ncbi/Curation ); précédent : 000753; suivant : 000755

Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location

Auteurs : C. Boucher ; C. Sargent ; T. Ogata ; N. Affara

Source :

RBID : PMC:1734929

Descripteurs français

English descriptors

Abstract

BACKGROUND—Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to be associated with other skeletal abnormalities, suggesting that haploinsufficiency of SHOX causes all the Turner skeletal anomalies. No such gene has yet been identified for the lymphoedemic features.
METHODS—Fluorescence in situ hybridisation (FISH) analysis with PAC clones on nine patients with partially deleted X chromosomes was performed.
RESULTS/DISCUSSION—The Turner syndrome stigmata for each patient are described and correlation between the breakpoint and the phenotype discussed. A lymphoedema critical region in Xp11.4 is proposed and its gene content discussed with respect to that in the previously reported Yp11.2 lymphoedema critical region.


Keywords: Turner syndrome; lymphoedema; Xp11.4


Url:
DOI: 10.1136/jmg.38.9.591
PubMed: 11546827
PubMed Central: 1734929

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PMC:1734929

Le document en format XML

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<term>Chromosome Breakage (genetics)</term>
<term>Chromosome Deletion</term>
<term>Chromosome Mapping</term>
<term>Databases, Nucleic Acid</term>
<term>Dosage Compensation, Genetic</term>
<term>Edema (complications)</term>
<term>Edema (genetics)</term>
<term>Edema (physiopathology)</term>
<term>Female</term>
<term>Genotype</term>
<term>Homeodomain Proteins (genetics)</term>
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<term>In Situ Hybridization, Fluorescence</term>
<term>Karyotyping</term>
<term>Microsatellite Repeats (genetics)</term>
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<term>Sequence Tagged Sites</term>
<term>Translocation, Genetic (genetics)</term>
<term>Turner Syndrome (complications)</term>
<term>Turner Syndrome (genetics)</term>
<term>Turner Syndrome (physiopathology)</term>
<term>X Chromosome (genetics)</term>
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<term>Chromosome X (génétique)</term>
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<term>Turner Syndrome</term>
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<term>Répétitions microsatellites</term>
<term>Syndrome de Turner</term>
<term>Translocation génétique</term>
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<term>Syndrome de Turner</term>
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<term>Turner Syndrome</term>
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<term>Chromosome Mapping</term>
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<term>Dosage Compensation, Genetic</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>In Situ Hybridization, Fluorescence</term>
<term>Karyotyping</term>
<term>Phenotype</term>
<term>Sequence Tagged Sites</term>
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<term>Compensation de dosage génétique</term>
<term>Délétion de segment de chromosome</term>
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<term>Génotype</term>
<term>Humains</term>
<term>Oedème</term>
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<p>
<italic>BACKGROUND</italic>
—Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the
<italic>SHOX</italic>
gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to be associated with other skeletal abnormalities, suggesting that haploinsufficiency of
<italic>SHOX</italic>
causes all the Turner skeletal anomalies. No such gene has yet been identified for the lymphoedemic features.

<italic>METHODS</italic>
—Fluorescence in situ hybridisation (FISH) analysis with PAC clones on nine patients with partially deleted X chromosomes was performed.

<italic>RESULTS/DISCUSSION</italic>
—The Turner syndrome stigmata for each patient are described and correlation between the breakpoint and the phenotype discussed. A lymphoedema critical region in Xp11.4 is proposed and its gene content discussed with respect to that in the previously reported Yp11.2 lymphoedema critical region.



<bold>Keywords:</bold>
Turner syndrome; lymphoedema; Xp11.4 </p>
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