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 language | English |
|---|---|
| Article number | 228 |
| Journal | BMC Research Notes |
| Volume | 8 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 14-12-2015 |
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All Science Journal Classification (ASJC) codes
- Biochemistry, Genetics and Molecular Biology(all)
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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 journal › Article
TY - JOUR
T1 - PCSK5 mutation in a patient with the VACTERL association
AU - Nakamura, Yukio
AU - Kikugawa, Shingo
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.
AB - 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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U2 - 10.1186/s13104-015-1166-0
DO - 10.1186/s13104-015-1166-0
M3 - Article
VL - 8
JO - BMC Research Notes
JF - BMC Research Notes
SN - 1756-0500
IS - 1
M1 - 228
ER -