Journal of the Chinese Medical Association
Volume 71, Issue 8 , Pages 406-410, August 2008

Analysis of the RET Gene in Subjects with Sporadic Hirschsprung's Disease

  • Tai-Wai Chin

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Chih-Yang Chiu

      Affiliations

    • Section of Biochemistry, Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medical Technology, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Hsin-Lin Tsai

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Chin-Su Liu

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Chou-Fu Wei

      Affiliations

    • Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • ,
  • Tjin-Shing Jap

      Affiliations

    • Section of Biochemistry, Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Division of Metabolism and Endocrinology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, R.O.C.
    • Faculty of Medical Technology, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • Faculty of Medicine, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    • Corresponding Author InformationCorrespondence to: Dr Tjin-Shing Jap, Section of Biochemistry, Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, 201, Section 2, Shih-Pai Road, Taipei 112, Taiwan, R.O.C.

Received 20 February 2008; accepted 29 July 2008.

Article Outline

Background

Hirschsprung's disease (HSCR), or aganglionic megacolon, is a hereditable disease of the enteric nervous system. It is an embryonic developmental disorder characterized by the absence of ganglion cells in the lower enteric plexus. Gut motility is compromised in HSCR, with consequent risk of intestinal obstruction.

Methods

We sequenced the RET gene and characterized the clinical manifestations in 15 unrelated Chinese patients (9 males, 6 females; age range, 2–21 years) with sporadic HSCR. Genomic DNA extraction, PCR and DNA sequence analysis were performed according to standard procedures.

Results

We identified heterozygous RET gene mutations in 2 patients. The mutations included a missense mutation in exon 2 (CGC → CAC) resulting in a substitution of arginine by histidine at codon 67 (patient 1), and a missense mutation in exon 3 (TAC → AAC) resulting in a substitution of tyrosine by asparagine at codon 146 (patient 2). The pathological findings disclosed short-segment HSCR in patient 1 and long-segment HSCR in patient 2, respectively.

Conclusion

We identified RET gene mutations in 2 of 15 patients with HSCR in Taiwan. The Y146N mutation we identified was novel.

Key Words:  Hirschsprung's disease , novel mutation , RET gene , Taiwan

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PII: S1726-4901(08)70091-1

doi:10.1016/S1726-4901(08)70091-1

Journal of the Chinese Medical Association
Volume 71, Issue 8 , Pages 406-410, August 2008

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