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AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3)

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收录情况： ◇ SCIE ◇ CSCD-C

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机构： [1]Capital Med Univ, Beijing Key Lab Genet Birth Defects, Ctr Endocrinol Genet & Metab, Beijing Childrens Hosp,Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China

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关键词： androgen insensitivity syndrome androgen receptor gene novel mutations genotype-phenotype correlation

摘要：

We investigated the androgen receptor (AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome (AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes (Prader grade 0-3). Patients and some family members were screened via amplification and sequencing of their AR exons 1-8, including the corresponding intronic flanking regions. Luteinizing (LH), follicle-stimulating (FSH), and testosterone (T) hormone levels were found to be slightly, but not significantly, higher in patients with complete androgen insensitivity syndrome (CAIS) than in patients with partial androgen insensitivity syndrome (PAIS) (P > 0.05). We identified 24 different AR mutations, including 12 that were novel. Ten patients (cases 2, 3, 10, 28, 11, 12, 19, 20, 24, and 25) were found to carry five recurrent mutations (p.Y572S, p.P914S, p.S176R, p.Y782N, and p.R841H); of these, p.Y572S, p.S176R, and p.Y782N were novel. Among the mutations identified in patients with CAIS, six (66.7%) were characterized as single-nucleotide missense mutations, and six (66.7%) were found to be located in the AR ligand-binding domain (LBD). Among the mutations identified in patients with PAIS, 15 (93.8%) were found to be missense, and 11 (68.8%) were found to be located in the LBD. Patients 10 and 28 were determined to harbor the same missense mutation (p.P914S), but were diagnosed with CAIS and PAIS, respectively. Sex hormone levels were slightly, but not significantly, elevated in patients with CAIS compared to those with PAIS. Missense mutations spanning AR exons 1-8 were the predominant form of identified mutations, and these were mostly located in the AR LBD. Approximately 50% of the identified mutations were novel, and have enriched the AR gene-mutation database. Patients harboring identical mutations were in some instances found to exhibit divergent phenotypes.

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出版当年[2016]版：

大类 | 4 区生物

小类 | 3 区生物学

最新[2023]版：

大类 | 2 区生物学

小类 | 2 区生物学

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出版当年[2015]版：

Q2 BIOLOGY

最新[2023]版：

Q1 BIOLOGY

影响因子： 8 最新[2023版] 7.3 最新五年平均 2.297 出版当年[2015版] 1.772 出版当年五年平均 1.688 出版前一年[2014版] 2.781 出版后一年[2016版]

第一作者：

第一作者机构： [1]Capital Med Univ, Beijing Key Lab Genet Birth Defects, Ctr Endocrinol Genet & Metab, Beijing Childrens Hosp,Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China

通讯作者：

通讯机构： [1]Capital Med Univ, Beijing Key Lab Genet Birth Defects, Ctr Endocrinol Genet & Metab, Beijing Childrens Hosp,Natl Ctr Childrens Hlth, Beijing 100045, Peoples R China

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