DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblings.
The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T. DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma was successfully performed in her two consequent pregnancies using chorionic villus samples at 10 to 11 weeks' gestation, several weeks earlier than the previously reported cases.
Tsuji-Abe
Yukiko
Y
Department of Dermatology at Hokkaido University Graduate School of Medicine, Sapporo, Japan.
Akiyama
Masashi
M
Nakamura
Hideki
H
Takizawa
Yasuko
Y
Sawamura
Daisuke
D
Matsunaga
Kayoko
K
Suzumori
Kaoru
K
Shimizu
Hiroshi
H
D000328:Adult; D015193:Chorionic Villi Sampling; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000175:diagnosis* / Q000235:genetics*; D053550:Keratin-10; D007633:Keratins / Q000235:genetics; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D035781:Siblings
C507493:KRT10 protein, human; D053550:Keratin-10; D007633:Keratins