Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

Eri Kondo, Takafumi Nishimura, Tomoki Kosho, Yuji Inaba, Satomi Mitsuhashi, Takefumi Ishida, Atsushi Baba, Kenichi Koike, Ichizo Nishino, Ikuya Nonaka, Toru Furukawa, Kayoko Saito

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

Abstract

Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient with severe congenital NM, through high-throughput screening of congenital myopathy/muscular dystrophy-related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing.

Original languageEnglish
Pages (from-to)772-778
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number4
DOIs
Publication statusPublished - 2012 Apr
Externally publishedYes

Keywords

  • Fetal akinesia
  • Massively parallel sequencing
  • Nemaline myopathy (NM)
  • Ophthalomoplegia
  • The ryanodine receptor type 1 gene (RYR1)

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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