A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency.
A G - C transversion at the fifth nucleotide of intron 3 of GH-I gene was identified in a sporadic case of isolated growth hormone deficiency (IGHD). The mutation was absent in both of the parents, indicating that the mutation occurred de novo. An abnormal hGH mRNA lacking a region encoded by exon 3 was spliced when the mutant GH-I gene was expressed in cultured cells. Since skipping of exon 3 is a common feature for four different mutant GH-I genes identified in patients with autosomal dominantly inherited IGHD, we conclude that the mutation causes IGHD in this case.
Hayashi
Y
Y
Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan. hayashiy@endeavor.riem.nagoya-u.ac.jp
Kamijo
T
T
Yamamoto
M
M
Ohmori
S
S
Phillips
J A
JA
Ogawa
M
M
Igarashi
Y
Y
Seo
H
H
D002460:Cell Line; D004252:DNA Mutational Analysis; D006128:Growth / Q000235:genetics; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D007962:Leukocytes; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014162:Transfection
D012333:RNA, Messenger; D013006:Growth Hormone