title: A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
authors.forename: Sanae
authors.initials: S
authors.lastname: Numata
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
authors.forename: Kwesi
authors.initials: K
authors.lastname: Teye
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
authors.forename: Rafal P
authors.initials: RP
authors.lastname: Krol
authors.affiliation: Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Okamatsu
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Hashikawa
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Matsuda
authors.affiliation: Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Fortugno
authors.affiliation: Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Di Zenzo
authors.affiliation: Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Castiglia
authors.affiliation: Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IDI-IRCCS, Rome, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zambruno
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Fukuoka, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
mesh_terms: D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D056770:Netherton Syndrome / Q000235:genetics*; D010641:Phenotype; D000074163:Serine Peptidase Inhibitor Kazal-Type 5 / Q000235:genetics*; D000069456:Silent Mutation
chemical_list: C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5
keywords: Netherton syndrome; SPINK5; p.Gln158Gln; pathogenicity