Identification of a Novel Titin Variant Underlying Myocardial Involvement in Neurofibromatosis Type 1 |
| |
Authors: | Mami Kizawa Yu Nakagama Takahiro Shindo Seishi Ogawa Ryo Inuzuka |
| |
Affiliation: | 1. Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan;2. Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan |
| |
Abstract: | Because of the rare co-occurrence, it remains a question whether cardiomyopathy is a true association of neurofibromatosis type 1. A boy with café-au-lait spots manifested restrictive cardiomyopathy. Whole exome sequencing confirmed the genetic diagnosis of neurofibromatosis and further identified a novel titin (TTN) missense variant. The significance of the variant is supported by its de novo origin, in silico predictions, and evolutionary conservation. Modern genetics raises an intriguing explanation for the unexpected phenotype and adds to the evolving role of TTN variants in cardiomyopathy. |
| |
Keywords: | Corresponding author: Dr Ryo Inuzuka, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. Tel.: +81-3-5800-8659 fax: +81-3-3816-4108. |
本文献已被 ScienceDirect 等数据库收录! |
|