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

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

Abstract 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...

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מידע ביבליוגרפי
Main Authors: Mario Torrado, Germán Fernández, Christian A. Ganoza, Emilia Maneiro, Diego García, Natalia Sonicheva-Paterson, Isaac Rosa, Juan Pablo Ochoa, Luis Santomé, Elena Vasichkina, Lorenzo Monserrat
פורמט: Article
שפה:English
יצא לאור: Nature Portfolio 2021-03-01
סדרה:npj Genomic Medicine
גישה מקוונת:https://doi.org/10.1038/s41525-021-00183-y

אינטרנט

https://doi.org/10.1038/s41525-021-00183-y

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