A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia.
X-linked hypohidrotic ectodermal dysplasia (XLHED; MIM 305100) is characterized by the absence or hypoplasia of hair, teeth, and sweat glands. The ED1 gene was identified as a responsive gene for XLHED. The patients were 2 Japanese brothers. Both had the same mutation in exon 1 of the ED1 gene, i.e. C deletion at nucleotide 49, which induced a frameshift starting from amino acid 17 and made a stop codon at amino acid 56, encoding the transmembrane site. The mutation caused the extracellular domain of ectodysplasin A to be completely absent. Their mother had a heterozygous allele; she congenitally lacked 1 tooth, and incisors appeared conical in form.
Nishibu
Akiko
A
Department of Dermatology, Fukushima Medical University School of Medicine, Fukushima, Japan. nishibu@fmu.ac.jp
Hashiguchi
Takaki
T
Yotsumoto
Shinichi
S
Takahashi
Masafumi
M
Nakamura
Koichiro
K
Kanzaki
Tamotsu
T
Kaneko
Fumio
F
D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D053331:Ectodysplasins; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D012867:Skin / Q000473:pathology
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins