A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed one known heterozygous pathogenic missense variant, KCNQ1 p.R259L, previously associat...

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Detalles Bibliográficos
Autores principales: Torrado, Mario, Fernández, Germán, Ganoza, Christian A., Maneiro, Emilia, García, Diego, Sonicheva-Paterson, Natalia, Rosa, Isaac, Ochoa, Juan Pablo, Santomé, Luis, Vasichkina, Elena, Monserrat, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933243/
https://www.ncbi.nlm.nih.gov/pubmed/33664273
http://dx.doi.org/10.1038/s41525-021-00183-y

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