Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant

TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigr...

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Published in:Revista española de cardiología (English ed.) 2022-03, Vol.75 (3), p.242-250
Main Authors: Lamounier Junior, Arsonval, Guitián González, Alba, Rodríguez Vilela, Alejandro, Repáraz Andrade, Alfredo, Rubio Alcaide, Álvaro, Berta Sousa, Ana, Benito López, Carmen, Alonso García, Diego, Fernández Ferro, Germán, Cruz, Inês, Cárdenas Reyes, Ivonne Johana, Salazar-Mendiguchía García, Joel, Larrañaga-Moreira, José María, Ochoa, Juan Pablo, Palomino-Doza, Julián, de la Higuera Romero, Luis, Nicolás Cicerchia, Marcos, Restrepo Córdoba, María Alejandra, Peña-Peña, María Luisa, Noël Brögger, Maria, Loureiro, Marilia, Mogollón Jiménez, María Victoria, Bilbao Quesada, Raquel, Franco Gutiérrez, Raúl, García Hernández, Soledad, Ripoll-Vera, Tomás, Fernández, Xusto, Azevedo, Olga, García Pavía, Pablo, Lopes, Luis R., Ortiz, Martín, Brito, Dulce, Barriales-Villa, Roberto, Monserrat Iglesias, Lorenzo
Format: Article
Language:English
Subjects:
Aged
Cardiomyopathy, Hypertrophic - diagnosis
Cardiomyopathy, Hypertrophic - genetics
Correlación genotipo-fenotipo
Efecto fundador
Female
Founder effect
Genetic Association Studies
Genotype-phenotype correlation
Humans
Hypertrophic cardiomyopathy
Male
Middle Aged
Miocardiopatía hipertrófica
Mutation
Next-generation sequencing
Pedigree
Phenotype
Portugal - epidemiology
Secuenciación de nueva generación
Spain - epidemiology
TPM1
Tropomiosina
Tropomyosin
Tropomyosin - genetics
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Summary:TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees. TPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain. The TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P
ISSN:1885-5857
1885-5857
DOI:10.1016/j.rec.2021.01.001