Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 59insC/Q425P mutations in integrin β4 gene (ITGB4)

Takuji Masunaga, Akira Ishiko, Yasuko Takizawa, Soo Chan Kim, Jin Sung Lee, Takeji Nishikawa, Hiroshi Shimizu

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB) is an autosomal recessive inherited rare blistering disorder caused by mutations in ITGA6 or ITGB4, genes encoding integrin α6 or β4, respectively. In this study, we have disclosed the mutations in ITGB4 in a Korean patient with PA-JEB. The proband, who showed skin blisters, was diagnosed as having pyloric atresia and died 2 years after birth. Mutational analysis showed a novel 594insC maternal mutation in exon 7, which led to premature termination codon (PTC), and a novel Q425P paternal mutation in exon 11. Q425P mutation was not detected in 200 alleles obtained from a normal healthy Korean control, and was shown to reduce α-helix forming ability in integrin β4 a by Gamier α-helicity plot of the protein, indicating that this mutation is pathogenic but not polymorphism. The phenotype in the present case can be explained by (1) the combination of PTC and missense mutation, and (2) amino-acid substitution occurring for the amino acid not preserved in the integrin β family. Our results contribute to further the accumulation of mutation data for better understanding of the genotype/phenotype correlation in PA-JEB, and may give profound insight into the role of integrins α6 and β4.

Original languageEnglish
Pages (from-to)61-64
Number of pages4
JournalExperimental dermatology
Volume13
Issue number1
DOIs
Publication statusPublished - 2004 Jan

Fingerprint

Junctional Epidermolysis Bullosa
Integrins
Genes
Mutation
Exons
Nonsense Codon
Amino Acids
Gene encoding
Polymorphism
Skin
Substitution reactions
Genetic Association Studies
Missense Mutation
Amino Acid Substitution
Blister
Pyloric Atresia
Alleles
Mothers
Parturition
Phenotype

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

Cite this

Masunaga, Takuji ; Ishiko, Akira ; Takizawa, Yasuko ; Kim, Soo Chan ; Lee, Jin Sung ; Nishikawa, Takeji ; Shimizu, Hiroshi. / Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 59insC/Q425P mutations in integrin β4 gene (ITGB4). In: Experimental dermatology. 2004 ; Vol. 13, No. 1. pp. 61-64.
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abstract = "Pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB) is an autosomal recessive inherited rare blistering disorder caused by mutations in ITGA6 or ITGB4, genes encoding integrin α6 or β4, respectively. In this study, we have disclosed the mutations in ITGB4 in a Korean patient with PA-JEB. The proband, who showed skin blisters, was diagnosed as having pyloric atresia and died 2 years after birth. Mutational analysis showed a novel 594insC maternal mutation in exon 7, which led to premature termination codon (PTC), and a novel Q425P paternal mutation in exon 11. Q425P mutation was not detected in 200 alleles obtained from a normal healthy Korean control, and was shown to reduce α-helix forming ability in integrin β4 a by Gamier α-helicity plot of the protein, indicating that this mutation is pathogenic but not polymorphism. The phenotype in the present case can be explained by (1) the combination of PTC and missense mutation, and (2) amino-acid substitution occurring for the amino acid not preserved in the integrin β family. Our results contribute to further the accumulation of mutation data for better understanding of the genotype/phenotype correlation in PA-JEB, and may give profound insight into the role of integrins α6 and β4.",
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Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 59insC/Q425P mutations in integrin β4 gene (ITGB4). / Masunaga, Takuji; Ishiko, Akira; Takizawa, Yasuko; Kim, Soo Chan; Lee, Jin Sung; Nishikawa, Takeji; Shimizu, Hiroshi.

In: Experimental dermatology, Vol. 13, No. 1, 01.2004, p. 61-64.

Research output: Contribution to journalArticle

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