Mild congenital myopathy due to a novel variation in SPEG gene

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YILDIRIM M., Balasar O., KÖSE E., Dogan M. T.

INTRACTABLE & RARE DISEASES RESEARCH, cilt.10, sa.3, ss.220-222, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 10 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5582/irdr.2021.01034
  • Dergi Adı: INTRACTABLE & RARE DISEASES RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.220-222
  • Anahtar Kelimeler: congenital myopathy, striated muscle preferentially expressed protein kinase, SPEG, centronuclear myopathy, intellectual disability
  • Ankara Üniversitesi Adresli: Evet

Özet

Centronuclear myopathies (CNMs) are a subgroup of congenital myopathies (CMs) characterized by muscle weakness, genetic heterogeneity, and predominant type 1 fibers and increased central nuclei in muscle biopsy. Mutations in CNM-causing genes such as MTM1, DNM2, BIN1, RYR1, CACNA1S, TTN, and extraordinary rarely SPEG (striated muscle preferentially expressed protein kinase) have been identified for about 60-80% of patients. Herein, we report a case of CM due to a novel variation in the SPEG gene, manifested by mild neonatal hypotonia, muscle weakness, delayed motor milestones, and ophthalmoplegia, without dilated cardiomyopathy. We identified a novel variation [c.153C>T (p.Asn51=) in exon 1] in the SPEG gene with whole-exome sequencing and confirmed by Sanger sequencing. Mild intellectual disability has not been associated with SPEG-related CM in the previous reports. We suggest that this report expands the phenotypic spectrum of SPEG-related CM, and further case reports are required to expand the genotype-phenotype correlations.