RAF1 mutations in childhood-onset dilated cardiomyopathy.

doi:10.1038/ng.2963

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Article

RAF1 mutations in childhood-onset dilated cardiomyopathy.

Nature genetics - 1 Jun 2014

Dhandapany Perundurai S, Razzaque Md Abdur, Muthusami Uthiralingam, Kunnoth Sreejith, Edwards Jonathan J, Mulero-Navarro Sonia, Riess Ilan, Pardo Sherly, Sheng Jipo, Rani Deepa Selvi, Rani Bindhu, Govindaraj Periyasamy, Flex Elisabetta, Yokota Tomohiro, Furutani Michiko, Nishizawa Tsutomu, Nakanishi Toshio, Robbins Jeffrey, Limongelli Giuseppe, Hajjar Roger J, Lebeche Djamel, Bahl Ajay, Khullar Madhu, Rathinavel Andiappan, Sadler Kirsten C, Tartaglia Marco, Matsuoka Rumiko, Thangaraj Kumarasamy, Gelb Bruce D

Abstract excerpt

Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ancestry, we discovered rare, functional RAF1 mutations in 3 of the cohorts (South Indian, North...

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Identifiers

PMID: 24777450
DOI: 10.1038/ng.2963
PMCID: PMC4049514

Genes

RAF1
BRAF

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