PCSK5 mutation in a patient with the VACTERL association

Yukio Nakamura*, Shingo Kikugawa, Shoji Seki, Masahiko Takahata, Norimasa Iwasaki, Hidetomi Terai, Mitsuhiro Matsubara, Fumio Fujioka, Hidehito Inagaki, Tatsuya Kobayashi, Tomoatsu Kimura, Hiroki Kurahashi, Hiroyuki Kato

*この論文の責任著者

研究成果: ジャーナルへの寄稿学術論文査読

11 被引用数 (Scopus)

抄録

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.

本文言語英語
論文番号228
ジャーナルBMC Research Notes
8
1
DOI
出版ステータス出版済み - 2015/12/14

ASJC Scopus 主題領域

  • 生化学、遺伝学、分子生物学一般

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