Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21

Rubio, Justin P.; Danek, Adrian; Stone, Caroline; Chalmers, R. M.; Wood, Nicholas W.; Verellen, Christine; Ferrer, Xavier; Malandrini, Alessandro; Fabrizi, Gian Maria; Manfredi, M.; Vance, Jefferey; Pericak‐Vance, Margaret A.; Brown, Robert H.; Rudolf, Gabrielle; Picard, Fabienne; Alonso, Elisa; Brin, Mitchell F.; Németh, Andrea H.; Farrall, Martin; Monaco, Anthony P.

doi:10.1086/514876

Cited by 97 publications

(48 citation statements)

References 36 publications

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“…Amplification conditions were as described previously. 10 Southern blot analysis Where it was repeatedly not possible to amplify a certain exon in a proband, Southern blot analysis was performed on BamHI, HindIII and EcoRI digests of the patient's genomic DNA according to standard procedures. 16 …”

Section: Haplotype Analysismentioning

confidence: 99%

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Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson‐Stone

Danek

Rampoldi³

et al. 2002

Eur J Hum Genet

145

123

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Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence in CHAC were screened for mutations by denaturing high-performance liquid chromatography in 43 probands with ChAc. We identified 57 different mutations, 54 of which have not previously been reported, in 39 probands. The novel mutations comprise 15 nonsense, 22 insertion/ deletion, 15 splice-site and two missense mutations and are distributed throughout the CHAC gene. Three mutations were found in multiple families within this or our previous study. The preponderance of mutations that are predicted to cause absence of gene product is consistent with the recessive inheritance of this disease. The high proportion of splice-site mutations found is probably a reflection of the large number of exons that comprise the CHAC gene. The CHAC protein product, chorein, appears to have a certain tolerance to amino-acid substitutions since only two out of nine substitutions described here appear to be pathogenic.

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Section: Haplotype Analysismentioning

confidence: 99%

“…10 We subsequently identified a novel gene in the ChAc critical region and found 16 different mutations in these same 11 families. 11 Another group who independently identified the gene reported one other mutation in three Japanese families.…”

Section: Introductionmentioning

confidence: 99%

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson‐Stone

Danek

Rampoldi³

et al. 2002

Eur J Hum Genet

145

123

View full text Add to dashboard Cite

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“…Chorea acanthocytosis is an autosomal recessive disease caused by a mutation of VPS13A gene in chromosome 9 (20,21). Consanguinous marryiage is common in families of patients and disease may not be seen in past generations.…”

Section: Discussionmentioning

confidence: 99%

A Case of Senile Chorea: Considering Huntington’s Disease and Neuroacanthocytosis in differential diagnosis

Elmalı¹,

Gündüz²,

Başlar³

et al. 2015

tnd

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“…The molecular basis of erythrocytes of chorea-acanthocytosis has not yet been revealed. Research on the genetic linkage of this disease has just begun [21]. …”

Section: Discussionmentioning

confidence: 99%

Ultrastructural Changes of Erythrocyte Membrane Skeletons in Chorea-Acanthocytosis and McLeod Syndrome Revealed by the Quick-Freezing and Deep-Etching Method

et al. 1999

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The shapes of acanthocytic erythrocytes have been thought to be related to changes of the organization of the membrane components. In this study, acanthocytes from a patient with chorea-acanthocytosis and a patient with McLeod syndrome were examined. These acanthocytes had a greater tendency to form spikes than normal erythrocytes in an incubation culture system, indicating their weakness against membrane tension. The membrane skeletons of erythrocytes from both patients were examined by our erythrocyte-splitting method followed by the quick-freezing and deep-etching method. The ultrastructural organization of the membrane skeletons was heterogeneous even in individual erythrocytes, indicating regional changes in the compactness of their meshworks. In the process of erythrocyte splitting, some erythrocyte membranes became reversed and protruded into the cytoplasmic side. In these regions, there were fewer filamentous structures. The focal membrane skeletal changes, which are probably one of the factors that induce the phenotype of an acanthocytic erythrocyte, were demonstrated for the first time by this method.

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Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21

Cited by 97 publications

References 36 publications

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

A Case of Senile Chorea: Considering Huntington’s Disease and Neuroacanthocytosis in differential diagnosis

Ultrastructural Changes of Erythrocyte Membrane Skeletons in Chorea-Acanthocytosis and McLeod Syndrome Revealed by the Quick-Freezing and Deep-Etching Method

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