Mild congenital myopathy due to a novel variation in SPEG gene
INTRACTABLE & RARE DISEASES RESEARCH, cilt.10, sa.3, ss.220-222, 2021 (ESCI, Scopus)
- 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
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- 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.