Complete androgen insensitivity syndrome caused by a novel splice donor site mutation and activation of a cryptic splice donor site in the androgen receptor gene
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- 作者：Joana B. Infantea ; 1 ; Maria I. Alvelosa ; 1 ; Margarida Bastosb ; Francisco Carrilhob ; Manuel C. Lemosa ; mclemos@fcsaude.ubi.pt" class="auth_mail" title="E-mail the corresponding author
- 关键词：AR ; androgen receptor ; bp ; base-pairs ; cDNA ; complementary DNA ; DNA ; deoxyribonucleic acid ; mRNA ; messenger RNA ; PCR ; polymerase chain reaction ; RNA ; ribonucleic acid ; RT-PCR ; reverse transcription PCR ; snRNA ; small nuclear RNA
- 刊名：Journal of Steroid Biochemistry and Molecular Biology
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：155
- 期：part_PA
- 页码：63-66
- 全文大小：740 K
文摘
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Androgen insensitivity syndrome is caused by mutations of the androgen receptor gene.
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We report a female with an XY karyotype and androgen-producing testis.
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We identified a novel AR splice donor site mutation in intron 4 (c.2173 + 2T > C).
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This mutation resulted in the activation of a cryptic splice donor site in exon 4.
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This rare splicing abnormality offers insight into the mechanisms of splicing defects.