Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development
Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Kim, Ja Hye [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017transfer abstract |
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| Umfang: |
7 |
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| Übergeordnetes Werk: |
Enthalten in: Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma - 2011, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:444 ; year:2017 ; day:15 ; month:03 ; pages:19-25 ; extent:7 |
| Links: |
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| DOI / URN: |
10.1016/j.mce.2017.01.037 |
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| 520 | |a Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. | ||
| 520 | |a Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. | ||
| 650 | 7 | |a Androgen receptor |2 Elsevier | |
| 650 | 7 | |a Exome sequencing |2 Elsevier | |
| 650 | 7 | |a SRD5A2 |2 Elsevier | |
| 650 | 7 | |a CYP17A1 |2 Elsevier | |
| 650 | 7 | |a Disorders of sex development |2 Elsevier | |
| 700 | 1 | |a Kang, Eungu |4 oth | |
| 700 | 1 | |a Heo, Sun Hee |4 oth | |
| 700 | 1 | |a Kim, Gu-Hwan |4 oth | |
| 700 | 1 | |a Jang, Ja-Hyun |4 oth | |
| 700 | 1 | |a Cho, Eun-Hae |4 oth | |
| 700 | 1 | |a Lee, Beom Hee |4 oth | |
| 700 | 1 | |a Yoo, Han-Wook |4 oth | |
| 700 | 1 | |a Choi, Jin-Ho |4 oth | |
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10.1016/j.mce.2017.01.037 doi GBVA2017009000018.pica (DE-627)ELV035839171 (ELSEVIER)S0303-7207(17)30050-3 DE-627 ger DE-627 rakwb eng 610 570 610 DE-600 570 DE-600 610 VZ 610 VZ 44.52 bkl Kim, Ja Hye verfasserin aut Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development 2017transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Androgen receptor Elsevier Exome sequencing Elsevier SRD5A2 Elsevier CYP17A1 Elsevier Disorders of sex development Elsevier Kang, Eungu oth Heo, Sun Hee oth Kim, Gu-Hwan oth Jang, Ja-Hyun oth Cho, Eun-Hae oth Lee, Beom Hee oth Yoo, Han-Wook oth Choi, Jin-Ho oth Enthalten in Elsevier Science Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma 2011 Amsterdam [u.a.] (DE-627)ELV010855734 volume:444 year:2017 day:15 month:03 pages:19-25 extent:7 https://doi.org/10.1016/j.mce.2017.01.037 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 44.52 Therapie Medizin VZ AR 444 2017 15 0315 19-25 7 045F 610 |
| spelling |
10.1016/j.mce.2017.01.037 doi GBVA2017009000018.pica (DE-627)ELV035839171 (ELSEVIER)S0303-7207(17)30050-3 DE-627 ger DE-627 rakwb eng 610 570 610 DE-600 570 DE-600 610 VZ 610 VZ 44.52 bkl Kim, Ja Hye verfasserin aut Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development 2017transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Androgen receptor Elsevier Exome sequencing Elsevier SRD5A2 Elsevier CYP17A1 Elsevier Disorders of sex development Elsevier Kang, Eungu oth Heo, Sun Hee oth Kim, Gu-Hwan oth Jang, Ja-Hyun oth Cho, Eun-Hae oth Lee, Beom Hee oth Yoo, Han-Wook oth Choi, Jin-Ho oth Enthalten in Elsevier Science Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma 2011 Amsterdam [u.a.] (DE-627)ELV010855734 volume:444 year:2017 day:15 month:03 pages:19-25 extent:7 https://doi.org/10.1016/j.mce.2017.01.037 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 44.52 Therapie Medizin VZ AR 444 2017 15 0315 19-25 7 045F 610 |
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10.1016/j.mce.2017.01.037 doi GBVA2017009000018.pica (DE-627)ELV035839171 (ELSEVIER)S0303-7207(17)30050-3 DE-627 ger DE-627 rakwb eng 610 570 610 DE-600 570 DE-600 610 VZ 610 VZ 44.52 bkl Kim, Ja Hye verfasserin aut Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development 2017transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Androgen receptor Elsevier Exome sequencing Elsevier SRD5A2 Elsevier CYP17A1 Elsevier Disorders of sex development Elsevier Kang, Eungu oth Heo, Sun Hee oth Kim, Gu-Hwan oth Jang, Ja-Hyun oth Cho, Eun-Hae oth Lee, Beom Hee oth Yoo, Han-Wook oth Choi, Jin-Ho oth Enthalten in Elsevier Science Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma 2011 Amsterdam [u.a.] (DE-627)ELV010855734 volume:444 year:2017 day:15 month:03 pages:19-25 extent:7 https://doi.org/10.1016/j.mce.2017.01.037 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 44.52 Therapie Medizin VZ AR 444 2017 15 0315 19-25 7 045F 610 |
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10.1016/j.mce.2017.01.037 doi GBVA2017009000018.pica (DE-627)ELV035839171 (ELSEVIER)S0303-7207(17)30050-3 DE-627 ger DE-627 rakwb eng 610 570 610 DE-600 570 DE-600 610 VZ 610 VZ 44.52 bkl Kim, Ja Hye verfasserin aut Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development 2017transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Androgen receptor Elsevier Exome sequencing Elsevier SRD5A2 Elsevier CYP17A1 Elsevier Disorders of sex development Elsevier Kang, Eungu oth Heo, Sun Hee oth Kim, Gu-Hwan oth Jang, Ja-Hyun oth Cho, Eun-Hae oth Lee, Beom Hee oth Yoo, Han-Wook oth Choi, Jin-Ho oth Enthalten in Elsevier Science Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma 2011 Amsterdam [u.a.] (DE-627)ELV010855734 volume:444 year:2017 day:15 month:03 pages:19-25 extent:7 https://doi.org/10.1016/j.mce.2017.01.037 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 44.52 Therapie Medizin VZ AR 444 2017 15 0315 19-25 7 045F 610 |
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10.1016/j.mce.2017.01.037 doi GBVA2017009000018.pica (DE-627)ELV035839171 (ELSEVIER)S0303-7207(17)30050-3 DE-627 ger DE-627 rakwb eng 610 570 610 DE-600 570 DE-600 610 VZ 610 VZ 44.52 bkl Kim, Ja Hye verfasserin aut Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development 2017transfer abstract 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. Androgen receptor Elsevier Exome sequencing Elsevier SRD5A2 Elsevier CYP17A1 Elsevier Disorders of sex development Elsevier Kang, Eungu oth Heo, Sun Hee oth Kim, Gu-Hwan oth Jang, Ja-Hyun oth Cho, Eun-Hae oth Lee, Beom Hee oth Yoo, Han-Wook oth Choi, Jin-Ho oth Enthalten in Elsevier Science Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma 2011 Amsterdam [u.a.] (DE-627)ELV010855734 volume:444 year:2017 day:15 month:03 pages:19-25 extent:7 https://doi.org/10.1016/j.mce.2017.01.037 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 44.52 Therapie Medizin VZ AR 444 2017 15 0315 19-25 7 045F 610 |
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Enthalten in Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma Amsterdam [u.a.] volume:444 year:2017 day:15 month:03 pages:19-25 extent:7 |
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Enthalten in Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma Amsterdam [u.a.] volume:444 year:2017 day:15 month:03 pages:19-25 extent:7 |
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Serum CCL2 and serum TNF-α – Two new biomarkers predict bone invasion, post-treatment distant metastasis and poor overall survival in nasopharyngeal carcinoma |
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Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development |
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Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. |
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Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. |
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Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes. Among them, four patients harbored pathogenic or likely pathogenic variants, while the remaining five patients (11.4%) had variants of uncertain significance. We were able to make a genetic diagnosis in 29.5% of patients with pathogenic or likely pathogenic mutations. Targeted exome sequencing is an efficient tool to improve the diagnostic yield of DSD, despite its phenotypic and genetic heterogeneity. |
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