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논문 기본 정보

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학술저널
저자정보
Lee, Seungbok (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) Jang, Sesong (Genomic Medicine Institute [GMI], Medical Research Center, Seoul National University) Shim, Youngkyu (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) Kim, Woo Joong (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) Kim, Soo Yeon (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) Cho, Anna (Department of Pediatrics, Ewha Womans University School of Medicine) Kim, Hunmin (Department of Pediatrics, Seoul National University Bundang Hospital) Kim, Jong-Il (Genomic Medicine Institute [GMI], Medical Research Center, Seoul National University) Lim, Byung Chan (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) Hwang, Hee (Department of Pediatrics, Seoul National University Bundang Hospital) Choi, Jieun (Departmen) Kim, Ki Joong Chae, Jong Hee
저널정보
대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제16권 제2호
발행연도
2019.1
수록면
67 - 70 (4page)

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Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.
#Muscular dystrophies #limb-girdle #Caveolin 3 #High-throughput nucleotide sequencing #Creatine kinase

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참고문헌 (12)

참고문헌 신청
Liewluck T / 2018 / Untangling the complexity of limb-girdle muscular dystrophies / Muscle Nerve 58:167~177 google schola OMIM-Online Mendelian Inheritance in Man® google schola Özyilmaz B / 2019 / Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies / Ann Hum Genet 83:331~347 google schola Minetti C / 1998 / Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy / Nat Genet 18:365~368 google schola Gazzerro E / 2010 / Caveolinopathies : from the biology of caveolin-3 to human diseases / Eur J Hum Genet 18:137~145 google schola

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