Novel desmoplakin mutations in familial Carvajal syndrome
| العنوان: | Novel desmoplakin mutations in familial Carvajal syndrome |
|---|---|
| المؤلفون: | Yermakovich, D., Larysa Sivitskaya, Vaikhanskaya, T., Danilenko, N., Motuk, I. |
| المصدر: | Scopus-Elsevier Acta Myologica |
| مصطلحات موضوعية: | Cardiomyopathy, Dilated, Heart Failure, Male, Parents, integumentary system, Siblings, desmoplakin mutations, cardiocutaneous phenotype, Prognosis, Carvajal syndrome, stomatognathic system, Desmoplakins, Echocardiography, Keratoderma, Palmoplantar, Mutation, Heart Transplantation, Humans, Original Article, Female, Genetic Testing, Cardiomyopathies, Child, Hair Diseases |
| الوصف: | Desmoplakin is encoded by DSP gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS). CS is an autosomal recessive genetic disorder, mapping on chromosome 6q24 and caused by mutations in DSP gene. We report a patient with CS caused by two novel mutations in DSP gene, inherited from his parents, both asymptomatic. The same phenotype was present in his younger sister who showed skin abnormality and woolly hairs. The segregation analysis of the known loci in DSP gene performed by genetic testing, was able to established the trans position of the two mutations (c.6986T > C and c.7123G > C) in the patient and his sister. The first mutation has been inherited from the mother, the other one from the father. The resulting compound heterozygous mutation in the siblings, is likely the cause of the disease. |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6284d569a678e3b3301f3f94a606a3eaTest http://www.scopus.com/inward/record.url?eid=2-s2.0-85062684401&partnerID=MN8TOARSTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.pmid.dedup....6284d569a678e3b3301f3f94a606a3ea |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |