PCSK5 mutation in a patient with the VACTERL association

BMC Research Notes

Hiroyuki Kato⁴  Hiroki Kurahashi⁵  Tomoatsu Kimura³  Tatsuya Kobayashi¹  Hidehito Inagaki⁵  Fumio Fujioka⁷  Mitsuhiro Matsubara⁷  Hidetomi Terai⁸  Norimasa Iwasaki⁶  Masahiko Takahata⁶  Shoji Seki³  Shingo Kikugawa²  Yukio Nakamura⁴ 

[1] Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA;DNA Chip Research Inc., Kanagawa, Japan;Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, Toyama, Japan;Department of Orthopaedic Surgery, Shinshu University School of Medicine, Matsumoto, Japan;Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan;Department of Orthopaedic Surgery, Hokkaido University School of Medicine, Sapporo, Japan;Department of Orthopaedic Surgery, Nagano Prefectural Children’s Hospital, Azumino, Japan;Department of Orthopaedic Surgery, Osaka City University Graduate School of Medicine, Osaka, Japan

关键词: Whole exome sequencing;    PCSK5 mutation;    VACTERL association;   

Others  :  1232404
DOI  :  10.1186/s13104-015-1166-0

 received in 2015-02-02, accepted in 2015-05-12,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Nakamura et al.

【 图 表 】

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