A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with netherton syndrome

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Netherton syndrome (NS) is a severe, autosomal, recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma (CIE), trichorrhexis invaginata (TI) - a distinctive hair-shaft anomaly, 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 recently identified type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. Here we report the mutation analysis of a 7-year-old Taiwanese boy with NS manifesting CIE with pathognomic ichthyosis linearis circumflexa dnd TI. Direct DNA sequencing of SPINK5 demonstrated a compound heterozygous mutation in the proband, 2260A>T (K754X) in exon 24 and 2468de1A in exon 26. The former is a novel mutation and was detected in the mother. The latter mutation was detected in the father and has been previously reported in several European families. Both mutations are expected to result in premature termination codons. Mutation analysis could provide a reliable prenatal diagnosis of this lethal ichthyosis.

Original languageEnglish
Pages (from-to)418-423
Number of pages6
JournalJournal of the Formosan Medical Association
Volume102
Issue number6
Publication statusPublished - 2003 Jun 1

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Netherton Syndrome
Serine Proteinase Inhibitors
Mutation
Ichthyosis
Congenital Ichthyosiform Erythroderma
Genes
Exons
Nonsense Codon
Disease Susceptibility
Prenatal Diagnosis
DNA Sequence Analysis
Fathers
Hair
Immunity
Mothers
Skin

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

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A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with netherton syndrome. / Chao, Sheau Chiou; Tsai, Ya Ming; Lee, Julia Yu Yun.

In: Journal of the Formosan Medical Association, Vol. 102, No. 6, 01.06.2003, p. 418-423.

Research output: Contribution to journalArticle

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