Journal of the Formosan Medical Association
Volume 109, Issue 3 , Pages 192-200, March 2010

NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

  • Pa-Fan Hsiao

      Affiliations

    • Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan
    • Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Pa-Fan Hsiao, Department of Dermatology, Mackay Memorial Hospital, 92 Section 2, Chung-Shan North Road, Taipei 10449, Taiwan
    • ,
  • Shuan-Pei Lin

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • Department of Infant and Child Care, National Taipei College of Nursing, Taipei, Taiwan
    • ,
  • Shu-Shien Chiang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • ,
  • Yu-Hung Wu

      Affiliations

    • Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan
    • Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • ,
  • Hsiu-Chin Chen

      Affiliations

    • Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan
    • Taipei Medical University, Taipei, Taiwan
    • ,
  • Yang-Chih Lin

      Affiliations

    • Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan
    • Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • Lee-Ming Institute of Technology, Taipei, Taiwan

Received 3 December 2008; received in revised form 26 March 2009; accepted 29 July 2009.

Background/Purpose

Incontinentia pigmenti is a rare, X-linked, dominant genodermatosis affecting skin, teeth, eyes, and central nervous system. Symptoms are associated with mutations in the nuclear factor-kappa B essential modulator (NEMO) gene on chromosome Xq28. Here, a subpopulation of Chinese patients with incontinentia pigmenti were examined to investigate the frequency and pattern of NEMO mutations, and to analyze their clinical features.

Methods

From January 1996 to August 2006, 52 participants (21 probands and 31 family members) were screened for symptoms of incontinentia pigmenti and NEMO gene mutations. We designed a NEMO-specific PCR primer, referred to as In2S, to detect a deletion of exon 4–10 of the NEMO gene, which represents the mutation most frequently associated with incontinentia pigmenti. For participants without this deletion, all exons were sequenced to screen for other NEMO mutations. In addition, the clinical manifestations and family histories of the participants were analyzed.

Results

Exon 4–10 was deleted in 13 probands, and one proband had a novel point mutation (G549C) in exon 5 that converted a glutamine to a histidine. Seven probands (33%) had no mutation in any of the exons of the NEMO gene. One of four participants who presented with hyperpigmentation also had the exon 4–10 deletion. One patient had a positive family history before the study took place, but no NEMO mutation was identified in any of the family members. Remarkably, the mothers of three of the probands exhibited the exon 4–10 deletion; however, their clinical manifestations were subtle and unrecognizable.

Conclusion

Mutational analysis of the NEMO gene was helpful in diagnosing incontinentia pigmenti among participants with a nearly normal phenotype or an incomplete form of the disease that only caused hyperpigmentation symptoms.

Key Words:  incontinentia pigmenti , NEMO gene

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PII: S0929-6646(10)60042-3

doi:10.1016/S0929-6646(10)60042-3

Journal of the Formosan Medical Association
Volume 109, Issue 3 , Pages 192-200, March 2010

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