A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency |
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Authors: | Yoshitaka Hayashi Takashi Kamijo Michiyo Yamamoto Sachiko Ohmori John A Phillips III Masamichi Ogawa Yutaka Igarashi Hisao Seo |
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Institution: | Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan. hayashiy@endeavor.riem.nagoya-u.ac.jp |
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Abstract: | 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. |
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Keywords: | Key words: short statue growth retardation splicing dominant negative effect |
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