Abstract

1. Abstract
1.1. Background: Carvajal syndrome(CS) is an autosomal dominant(AD) or autosomal recessive(AR) genetic cardiocutaneous syndrome that associates with mutations in desmoplakin (DSP) gene and characterized by woolly hair, palmoplantar keratoderma(PPK) as well as left ventricular dilated cardiomyopathy (DCM). Methods：In this report, whole exome sequencing(WES) was conducted to examine the mutations of patients and the Sanger sequencing was applied to identify suspicious variants in their parents. Results: A 7 years old female patient was admitted to our center due to heart failure. She had curly hair at birth, developed palmoplantar keratosis at the age of 4 years, and heart failure at the age of 6 years. WES result suggested she carried a novel homozygous variant c.4597C>T (p.Q1533X) in DSP gene, whereas her parents carried the same variant in heterozygous state. Patient 2 presented with similar symptoms and carried a de novo heterozygous variants c.1853A>C (p.H618P) in DSP gene. Conclusion: This report extended the spectrum of CS associated DSP gene mutations and provided important clinical references.