PCSK5 mutation in a patient with the VACTERL association

  • Yukio Nakamura (作成者)
  • Shingo Kikugawa (作成者)
  • Shoji Seki (作成者)
  • Masahiko Takahata (作成者)
  • Norimasa Iwasaki (作成者)
  • Hidetomi Terai (寄稿者)
  • Mitsuhiro Matsubara (作成者)
  • Fumio Fujioka (作成者)
  • Hidehito Inagaki (寄稿者)
  • Tatsuya Kobayashi (作成者)
  • Tomoatsu Kimura (寄稿者)
  • Hiroki Kurahashi (作成者)
  • Hiroyuki Kato (作成者)

データセット

説明

Abstract Background The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities. Although several chromosomal aberrations and gene muta tions have been reported as disease-causative, these findings have been sparsely replicated to date. Case presentation In the present study, whole exome sequencing of a case with the VACTERL association uncovered a novel frameshift mutation in the PCSK5 gene, which has been reported as one of the causative genes for the VACTERL association. Although this mutation appears potentially pathogenic in its functional aspects, it was also carried by the healthy father. Furthermore, a database survey revealed several other deleterious variants in the PCSK5 gene in the general population. Conclusions Further studies are necessary to clarify the etiological role of the PCSK5 mutation in the VACTERL association.
利用可能になった日2015
出版社figshare
  • PCSK5 mutation in a patient with the VACTERL association

    Nakamura, Y., Kikugawa, S., Seki, S., Takahata, M., Iwasaki, N., Terai, H., Matsubara, M., Fujioka, F., Inagaki, H., Kobayashi, T., Kimura, T., Kurahashi, H. & Kato, H., 2015/12/14, In: BMC Research Notes. 8, 1, 228.

    研究成果: ジャーナルへの寄稿学術論文査読

    Open Access
    11 被引用数 (Scopus)

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