Title |
PCSK5 mutation in a patient with the VACTERL association
|
---|---|
Published in |
BMC Research Notes, June 2015
|
DOI | 10.1186/s13104-015-1166-0 |
Pubmed ID | |
Authors |
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 |
Abstract |
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. 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. Further studies are necessary to clarify the etiological role of the PCSK5 mutation in the VACTERL association. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 3% |
Unknown | 31 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 5 | 16% |
Professor > Associate Professor | 4 | 13% |
Professor | 3 | 9% |
Student > Doctoral Student | 3 | 9% |
Student > Bachelor | 2 | 6% |
Other | 7 | 22% |
Unknown | 8 | 25% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 34% |
Biochemistry, Genetics and Molecular Biology | 7 | 22% |
Agricultural and Biological Sciences | 2 | 6% |
Neuroscience | 2 | 6% |
Immunology and Microbiology | 1 | 3% |
Other | 0 | 0% |
Unknown | 9 | 28% |