Journal of Genetic Medicine

  • 제15권2호
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  • Pages.97-101
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  • 2018
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

  • Park, Jin-Mo (Department of Neurology, Dongguk University College of Medicine) ;
  • Lee, Yun Jeong (Department of Pediatric Neurology, Kyungpook National University Hospital) ;
  • Park, Jin-Sung (Department of Neurology, School of Medicine, Kyungpook National University Chilgok Hospital)
  • 투고 : 2018.05.18
  • 심사 : 2018.06.26
  • 발행 : 2018.12.31
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초록

Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

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참고문헌

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