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X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child
Chia-Ying Chang1, Shuan-Pei Lin, Hsiang-Yu Lin
1Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Insights
This case study details a preterm infant diagnosed with severe X-linked myotubular myopathy. Genetic analysis identified a specific MTM1 gene mutation, confirming carrier status in the mother.
Area of Science:
- Genetics
- Pediatrics
- Neuromuscular Disorders
Background:
- X-linked myotubular myopathy (XLMTM) is a severe congenital neuromuscular disorder.
- XLMTM primarily affects males and is characterized by profound muscle weakness at birth.
Observation:
- A preterm male infant presented with generalized hypotonia, dysphagia, and respiratory distress.
- Clinical features included a long thin face and arachnodactyly.
- Diagnosis was supported by fetal history, muscle biopsy, electron microscopy, and genetic testing.
Findings:
- A pathogenic variant, c.1160C>A (p.S387Y), was identified in exon 11 of the MTM1 gene.
- This mutation was present in the affected infant and the mother, who was a carrier.
- The infant's father had a normal MTM1 gene.
Implications:
- This case highlights the importance of genetic testing for diagnosing XLMTM.
- Identifying carrier status in mothers is crucial for genetic counseling and family planning.
- Understanding MTM1 mutations advances knowledge of XLMTM pathogenesis and potential therapeutic targets.
Abstract:
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis. The infant had a long thin face, generalized hypotonia, and arachnodactyly. Diagnosis was based on fetal history, muscle histopathology, electron microscopy and a genetic study. A base pair change was detected in exon 11 of the MTM1 gene: c.1160C>A, which caused an amino acid change, p.S387Y. The father's gene was normal but the mother had the same mutation as her son and was thus a carrier.
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