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Netherton syndrome: mutation analysis of two Taiwanese families

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Abstract

Netherton syndrome (NS) is a severe autosomal recessive skin disorder characterized by congenital ichthyosiform erythroderma, hair shaft abnormalities, and atopic diathesis. Recently, pathogenic mutations were identified in serine protease inhibitor Kazal-type 5 (SPINK5), the gene that encodes lympho-epithelial Kazal-type related inhibitor (LEKTI), a type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. In the present report, we describe the mutation analysis of two Taiwanese patients with NS. Patient 1 has heterozygous mutations; the maternal allele has novel T808I (C–T transition in codon 808) and the paternal allele has recurrent R790X (C–T transition in codon 790). Patient 2 is homozygous for a novel polymorphism R267Q (G–A transition in codon 267). The change was not detected in the patient’s father. Haplotype analysis revealed that the patient was homozygous for the 5 single nucleotide polymorphisms in the genomic sequence of SPINK5 as well as the flanking (GT)17 and D5S413, in addition to the discrepancy of R267Q. Nevertheless real-time quantitative PCR analysis revealed no microdeletion in the genomic sequence of SPINK5. Thus uniparental disomy of maternal SPINK5 allele was indicated.

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Acknowledgments

We thank the patients’ families for their support. Part of this work was supported by grants NSC-91-2311-B-003-002 and NSC-92-2311-B-003-003 from the National Science Council, Executive Yuan, ROC.

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Authors and Affiliations

  1. Division of Genetics and Metabolism, Departments of Pediatrics and Medical Research, Mackay Memorial Hospital, Taipei, Taiwan

    Shuan-Pei Lin

  2. Mackay Medicine, Nursing and Management College, Taipei, Taiwan

    Shuan-Pei Lin

  3. Department of Infant and Child Care, National Taipei College of Nursing, Taipei, Taiwan

    Shuan-Pei Lin

  4. Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei, 116, Taiwan

    Shu-Yi Huang, Cheng-Yueh Lin & Guey-Jen Lee-Chen

  5. Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan

    Mei-Eng Tu & Yu-Hung Wu

  6. Division of Genetics and Metabolism, Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan

    Hsiang-Yu Lin

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  1. Shuan-Pei Lin
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  3. Mei-Eng Tu
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Correspondence to Guey-Jen Lee-Chen.

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Shuan-Pei Lin and Shu-Yi Huang contributed equally to this work.

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Lin, SP., Huang, SY., Tu, ME. et al. Netherton syndrome: mutation analysis of two Taiwanese families . Arch Dermatol Res 299, 145–150 (2007). https://doi.org/10.1007/s00403-007-0751-z

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  • DOI: https://doi.org/10.1007/s00403-007-0751-z

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