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PCSK5 mutation in a patient with the VACTERL association

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 aberrati...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467638/
https://www.ncbi.nlm.nih.gov/pubmed/26055999
http://dx.doi.org/10.1186/s13104-015-1166-0
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author 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
author_facet 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
author_sort Nakamura, Yukio
collection PubMed
description 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13104-015-1166-0) contains supplementary material, which is available to authorized users.
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spelling pubmed-44676382015-06-16 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 BMC Res Notes Case Report 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13104-015-1166-0) contains supplementary material, which is available to authorized users. BioMed Central 2015-06-09 /pmc/articles/PMC4467638/ /pubmed/26055999 http://dx.doi.org/10.1186/s13104-015-1166-0 Text en © Nakamura et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Cohttp://creativecommons.org/publicdomain/zero/1.0/mmons Public Domain Dedication waiver () applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
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
title PCSK5 mutation in a patient with the VACTERL association
title_full PCSK5 mutation in a patient with the VACTERL association
title_fullStr PCSK5 mutation in a patient with the VACTERL association
title_full_unstemmed PCSK5 mutation in a patient with the VACTERL association
title_short PCSK5 mutation in a patient with the VACTERL association
title_sort pcsk5 mutation in a patient with the vacterl association
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467638/
https://www.ncbi.nlm.nih.gov/pubmed/26055999
http://dx.doi.org/10.1186/s13104-015-1166-0
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