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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

ABSTRACT: FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.

SUBMITTER: Estan MC 

PROVIDER: S-EPMC6377633 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Estañ María Cristina MC   Fernández-Núñez Elisa E   Zaki Maha S MS   Esteban María Isabel MI   Donkervoort Sandra S   Hawkins Cynthia C   Caparros-Martin José A JA   Saade Dimah D   Hu Ying Y   Bolduc Véronique V   Chao Katherine Ru-Yui KR   Nevado Julián J   Lamuedra Ana A   Largo Raquel R   Herrero-Beaumont Gabriel G   Regadera Javier J   Hernandez-Chico Concepción C   Tizzano Eduardo F EF   Martinez-Glez Victor V   Carvajal Jaime J JJ   Zong Ruiting R   Nelson David L DL   Otaify Ghada A GA   Temtamy Samia S   Aglan Mona M   Issa Mahmoud M   Bönnemann Carsten G CG   Lapunzina Pablo P   Yoon Grace G   Ruiz-Perez Victor L VL  

Nature communications 20190215 1

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15  ...[more]

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