Entry - %604401 - ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6 - OMIM

 
ICD+
% 604401

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6


Alternative titles; symbols

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 6; ARVC6


Cytogenetic location: 10p14-p12     Genomic coordinates (GRCh38): 10:6,600,001-29,300,000


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
10p14-p12 Arrhythmogenic right ventricular dysplasia 6 604401 2
Phenotypic Series
 


▼ TEXT

For a phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970).

▼ Clinical Features

Li et al. (2000) reported a North American family with early-onset arrhythmogenic right ventricular dysplasia (ARVD) and high penetrance. All of the children with the disease haplotype had pathologic or clinical evidence of the disease at under 10 years of age. The family spanned 5 generations, having 10 living and 2 dead affected individuals, with ARVD segregating as an autosomal dominant.


▼ Mapping

By linkage analysis in a North American family with early-onset arrhythmogenic right ventricular dysplasia, Li et al. (2000) first excluded the 5 previously known ARVD loci, and a novel locus was identified on 10p14-p12. A peak 2-point lod score of 3.92 was obtained with marker D10S1664 at a recombination fraction of 0.0. Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between markers D10S547 and D10S1653.


▼ Molecular Genetics

Li et al. (2000) investigated the involvement of the PTPLA gene (610467) in the family with ARVD mapped to 10p by Li et al. (2000). A lys64-to-gln missense mutation was identified in all affected members, but was also found in 1 unaffected family member and 3 unaffected, unrelated controls, and is, therefore, likely to represent a benign polymorphism.


▼ REFERENCES

  1. Li, D., Ahmad, F., Gardner, M. J., Weilbaecher, D., Hill, R., Karibe, A., Gonzalez, O., Tapscott, T., Sharratt, G. P., Bachinski, L. L., Roberts, R. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am. J. Hum. Genet. 66: 148-156, 2000. [PubMed: 10631146, images, related citations] [Full Text]

  2. Li, D., Gonzalez, O., Bachinski, L. L., Roberts, R. Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD. Gene 256: 237-243, 2000. [PubMed: 11054553, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 1/4/2000
Edit History:
carol : 09/21/2011
carol : 10/6/2006
mgross : 3/18/2004
terry : 2/10/2000
mgross : 1/5/2000
mgross : 1/4/2000

% 604401

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 6; ARVD6


Alternative titles; symbols

ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 6; ARVC6


ORPHA: 217656;   DO: 0110075;  


Cytogenetic location: 10p14-p12     Genomic coordinates (GRCh38): 10:6,600,001-29,300,000


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
10p14-p12 Arrhythmogenic right ventricular dysplasia 6 604401 2

TEXT

For a phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970).

Clinical Features

Li et al. (2000) reported a North American family with early-onset arrhythmogenic right ventricular dysplasia (ARVD) and high penetrance. All of the children with the disease haplotype had pathologic or clinical evidence of the disease at under 10 years of age. The family spanned 5 generations, having 10 living and 2 dead affected individuals, with ARVD segregating as an autosomal dominant.


Mapping

By linkage analysis in a North American family with early-onset arrhythmogenic right ventricular dysplasia, Li et al. (2000) first excluded the 5 previously known ARVD loci, and a novel locus was identified on 10p14-p12. A peak 2-point lod score of 3.92 was obtained with marker D10S1664 at a recombination fraction of 0.0. Additional genotyping and haplotype analysis identified a shared region of 10.6 cM between markers D10S547 and D10S1653.


Molecular Genetics

Li et al. (2000) investigated the involvement of the PTPLA gene (610467) in the family with ARVD mapped to 10p by Li et al. (2000). A lys64-to-gln missense mutation was identified in all affected members, but was also found in 1 unaffected family member and 3 unaffected, unrelated controls, and is, therefore, likely to represent a benign polymorphism.


REFERENCES

  1. Li, D., Ahmad, F., Gardner, M. J., Weilbaecher, D., Hill, R., Karibe, A., Gonzalez, O., Tapscott, T., Sharratt, G. P., Bachinski, L. L., Roberts, R. The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am. J. Hum. Genet. 66: 148-156, 2000. [PubMed: 10631146] [Full Text: https://doi.org/10.1086/302713]

  2. Li, D., Gonzalez, O., Bachinski, L. L., Roberts, R. Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD. Gene 256: 237-243, 2000. [PubMed: 11054553] [Full Text: https://doi.org/10.1016/s0378-1119(00)00347-4]


Creation Date:
Victor A. McKusick : 1/4/2000

Edit History:
carol : 09/21/2011
carol : 10/6/2006
mgross : 3/18/2004
terry : 2/10/2000
mgross : 1/5/2000
mgross : 1/4/2000



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 20, 2024