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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Article number228
JournalBMC Research Notes
Volume8
Issue number1
DOIs
Publication statusPublished - 14-12-2015

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Genes
Mutation
Imperforate Anus
Exome
Defects
Frameshift Mutation
Aberrations
Fathers
Chromosome Aberrations
Extremities
Databases
Kidney
VACTERL association
Population

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Nakamura, Y., Kikugawa, S., Seki, S., Takahata, M., Iwasaki, N., Terai, H., ... Kato, H. (2015). PCSK5 mutation in a patient with the VACTERL association. BMC Research Notes, 8(1), [228]. https://doi.org/10.1186/s13104-015-1166-0
Nakamura, Yukio ; Kikugawa, Shingo ; Seki, Shoji ; Takahata, Masahiko ; Iwasaki, Norimasa ; Terai, Hidetomi ; Matsubara, Mitsuhiro ; Fujioka, Fumio ; Inagaki, Hidehito ; Kobayashi, Tatsuya ; Kimura, Tomoatsu ; Kurahashi, Hiroki ; Kato, Hiroyuki. / PCSK5 mutation in a patient with the VACTERL association. In: BMC Research Notes. 2015 ; Vol. 8, No. 1.
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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, 'PCSK5 mutation in a patient with the VACTERL association', BMC Research Notes, vol. 8, no. 1, 228. https://doi.org/10.1186/s13104-015-1166-0

PCSK5 mutation in a patient with the VACTERL association. / Nakamura, Yukio; Kikugawa, Shingo; Seki, Shoji; Takahata, Masahiko; Iwasaki, Norimasa; Terai, Hidetomi; Matsubara, Mitsuhiro; Fujioka, Fumio; Inagaki, Hidehito; Kobayashi, Tatsuya; Kimura, Tomoatsu; Kurahashi, Hiroki; Kato, Hiroyuki.

In: BMC Research Notes, Vol. 8, No. 1, 228, 14.12.2015.

Research output: Contribution to journalArticle

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AU - Seki, Shoji

AU - Takahata, Masahiko

AU - Iwasaki, Norimasa

AU - Terai, Hidetomi

AU - Matsubara, Mitsuhiro

AU - Fujioka, Fumio

AU - Inagaki, Hidehito

AU - Kobayashi, Tatsuya

AU - Kimura, Tomoatsu

AU - Kurahashi, Hiroki

AU - Kato, Hiroyuki

PY - 2015/12/14

Y1 - 2015/12/14

N2 - 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.

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Nakamura Y, Kikugawa S, Seki S, Takahata M, Iwasaki N, Terai H et al. PCSK5 mutation in a patient with the VACTERL association. BMC Research Notes. 2015 Dec 14;8(1). 228. https://doi.org/10.1186/s13104-015-1166-0