A Novel Splice Site Variant in KLHL40 Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability
Molecular Syndromology, cilt.16, sa.1, ss.61-68, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 16 Sayı: 1
- Basım Tarihi: 2025
- Doi Numarası: 10.1159/000540325
- Dergi Adı: Molecular Syndromology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.61-68
- Anahtar Kelimeler: KLHL40, Nemaline myopathy, Splice region variant
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Introduction: Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of KLHL40 gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms, including hypotonia, muscle weakness, joint contractures and fractures. Nemaline bodies in muscle fiber are characteristic findings of the disease. Case Presentation: Here, we presented three affected individuals in a family with variable phenotypes, in whom the same novel splice-site variant in KLHL40 gene (c.1607+3A>PT) was detected. Discussion: This study expanded the spectrum of genotype and phenotype of NEM8, and emphasized that molecular genetic tests are highly valuable in diagnosis of patients with inconclusive muscle biopsy results.