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Pubmed ID :26642364
Publication Date : //

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.


The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, we have described a homozygous missense variant (c.602C>T, p.S201F) in POPDC1, identified by whole-exome sequencing, in a family of 4 with cardiac arrhythmia and limb-girdle muscular dystrophy (LGMD). This allele was absent in known databases and segregated with the pathological phenotype in this family. We did not find the allele in a further screen of 104 patients with a similar phenotype, suggesting this mutation to be family specific. Compared with WT protein, POPDC1(S201F) displayed a 50% reduction in cAMP affinity, and in skeletal muscle from patients, both POPDC1(S201F) and WT POPDC2 displayed impaired membrane trafficking. Forced expression of POPDC1(S201F) in a murine cardiac muscle cell line (HL-1) increased hyperpolarization and upstroke velocity of the action potential. In zebrafish, expression of the homologous mutation (popdc1(S191F)) caused heart and skeletal muscle phenotypes that resembled those observed in patients. Our study therefore identifies POPDC1 as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and LGMD, expanding the genetic causes of this heterogeneous group of inherited rare diseases.

Authors : Schindler Roland F R , Scotton Chiara , Zhang Jianguo , Passarelli Chiara , Ortiz-Bonnin Beatriz , Simrick Subreena , Schwerte Thorsten , Poon Kar-Lai , Fang Mingyan , Rinné Susanne , Froese Alexander , Nikolaev Viacheslav O , Grunert Christiane , Müller Thomas , Tasca Giorgio , Sarathchandra Padmini , Drago Fabrizio , Dallapiccola Bruno , Rapezzi Claudio , Arbustini Eloisa , Di Raimo Francesca Romana , Neri Marcella , Selvatici Rita , Gualandi Francesca , Fattori Fabiana , Pietrangelo Antonello , Li Wenyan , Jiang Hui , Xu Xun , Bertini Enrico , Decher Niels , Wang Jun , Brand Thomas , Ferlini Alessandra ,

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