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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 89 - 93 (5page)
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초록· 키워드
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Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.
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참고문헌 (12)
참고문헌 신청
Lee JM / 2017 / Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea / J Neurol Sci 383:61~68
Moreau-Le Lan S / 2018 / New mutations found by next-generation sequencing screening of Spanish patients with nemaline myopathy / PLoS One 13:e0207296
Ryan MM / 2001 / Nemaline myopathy : a clinical study of 143cases / Ann Neurol 50:312~320
Romero NB / 2013 / Recent advances in nemaline myopathy / Curr Opin Neurol 26:519~526
Wallgren-Pettersson C / 2007 / Distal myopathy caused by homozygous missense mutations in the nebulin gene / Brain 130(Pt 6):1465~1476
Moreau-Le Lan S / 2018 / New mutations found by next-generation sequencing screening of Spanish patients with nemaline myopathy / PLoS One 13:e0207296
Ryan MM / 2001 / Nemaline myopathy : a clinical study of 143cases / Ann Neurol 50:312~320
Romero NB / 2013 / Recent advances in nemaline myopathy / Curr Opin Neurol 26:519~526
Wallgren-Pettersson C / 2007 / Distal myopathy caused by homozygous missense mutations in the nebulin gene / Brain 130(Pt 6):1465~1476
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