Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series
This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samp...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Yassaee, Vahid Reza [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017transfer abstract |
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| Umfang: |
8 |
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| Übergeordnetes Werk: |
Enthalten in: Li-CO - Zhang, Peng-Fang ELSEVIER, 2022, international journal of clinical chemistry and applied molecular biology, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:474 ; year:2017 ; pages:88-95 ; extent:8 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.cca.2017.08.017 |
|---|
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ELV020534698 |
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| 520 | |a This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. | ||
| 520 | |a This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. | ||
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10.1016/j.cca.2017.08.017 doi GBV00000000000002.pica (DE-627)ELV020534698 (ELSEVIER)S0009-8981(17)30319-4 DE-627 ger DE-627 rakwb eng 540 610 540 DE-600 610 DE-600 660 VZ 660 VZ 58.10 bkl Yassaee, Vahid Reza verfasserin aut Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series 2017transfer abstract 8 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. Hashemi-Gorji, Feyzollah oth Miryounesi, Mohammad oth Rezayi, Alireza oth Ravesh, Zeinab oth Yassaee, Fakhrolmolouk oth Salehpour, Shadab oth Enthalten in Elsevier Science Zhang, Peng-Fang ELSEVIER Li-CO 2022 international journal of clinical chemistry and applied molecular biology Amsterdam [u.a.] (DE-627)ELV008356149 volume:474 year:2017 pages:88-95 extent:8 https://doi.org/10.1016/j.cca.2017.08.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 58.10 Verfahrenstechnik: Allgemeines VZ AR 474 2017 88-95 8 045F 540 |
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10.1016/j.cca.2017.08.017 doi GBV00000000000002.pica (DE-627)ELV020534698 (ELSEVIER)S0009-8981(17)30319-4 DE-627 ger DE-627 rakwb eng 540 610 540 DE-600 610 DE-600 660 VZ 660 VZ 58.10 bkl Yassaee, Vahid Reza verfasserin aut Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series 2017transfer abstract 8 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. Hashemi-Gorji, Feyzollah oth Miryounesi, Mohammad oth Rezayi, Alireza oth Ravesh, Zeinab oth Yassaee, Fakhrolmolouk oth Salehpour, Shadab oth Enthalten in Elsevier Science Zhang, Peng-Fang ELSEVIER Li-CO 2022 international journal of clinical chemistry and applied molecular biology Amsterdam [u.a.] (DE-627)ELV008356149 volume:474 year:2017 pages:88-95 extent:8 https://doi.org/10.1016/j.cca.2017.08.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 58.10 Verfahrenstechnik: Allgemeines VZ AR 474 2017 88-95 8 045F 540 |
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10.1016/j.cca.2017.08.017 doi GBV00000000000002.pica (DE-627)ELV020534698 (ELSEVIER)S0009-8981(17)30319-4 DE-627 ger DE-627 rakwb eng 540 610 540 DE-600 610 DE-600 660 VZ 660 VZ 58.10 bkl Yassaee, Vahid Reza verfasserin aut Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series 2017transfer abstract 8 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. Hashemi-Gorji, Feyzollah oth Miryounesi, Mohammad oth Rezayi, Alireza oth Ravesh, Zeinab oth Yassaee, Fakhrolmolouk oth Salehpour, Shadab oth Enthalten in Elsevier Science Zhang, Peng-Fang ELSEVIER Li-CO 2022 international journal of clinical chemistry and applied molecular biology Amsterdam [u.a.] (DE-627)ELV008356149 volume:474 year:2017 pages:88-95 extent:8 https://doi.org/10.1016/j.cca.2017.08.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 58.10 Verfahrenstechnik: Allgemeines VZ AR 474 2017 88-95 8 045F 540 |
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10.1016/j.cca.2017.08.017 doi GBV00000000000002.pica (DE-627)ELV020534698 (ELSEVIER)S0009-8981(17)30319-4 DE-627 ger DE-627 rakwb eng 540 610 540 DE-600 610 DE-600 660 VZ 660 VZ 58.10 bkl Yassaee, Vahid Reza verfasserin aut Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series 2017transfer abstract 8 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. Hashemi-Gorji, Feyzollah oth Miryounesi, Mohammad oth Rezayi, Alireza oth Ravesh, Zeinab oth Yassaee, Fakhrolmolouk oth Salehpour, Shadab oth Enthalten in Elsevier Science Zhang, Peng-Fang ELSEVIER Li-CO 2022 international journal of clinical chemistry and applied molecular biology Amsterdam [u.a.] (DE-627)ELV008356149 volume:474 year:2017 pages:88-95 extent:8 https://doi.org/10.1016/j.cca.2017.08.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 58.10 Verfahrenstechnik: Allgemeines VZ AR 474 2017 88-95 8 045F 540 |
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10.1016/j.cca.2017.08.017 doi GBV00000000000002.pica (DE-627)ELV020534698 (ELSEVIER)S0009-8981(17)30319-4 DE-627 ger DE-627 rakwb eng 540 610 540 DE-600 610 DE-600 660 VZ 660 VZ 58.10 bkl Yassaee, Vahid Reza verfasserin aut Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series 2017transfer abstract 8 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. Hashemi-Gorji, Feyzollah oth Miryounesi, Mohammad oth Rezayi, Alireza oth Ravesh, Zeinab oth Yassaee, Fakhrolmolouk oth Salehpour, Shadab oth Enthalten in Elsevier Science Zhang, Peng-Fang ELSEVIER Li-CO 2022 international journal of clinical chemistry and applied molecular biology Amsterdam [u.a.] (DE-627)ELV008356149 volume:474 year:2017 pages:88-95 extent:8 https://doi.org/10.1016/j.cca.2017.08.017 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 58.10 Verfahrenstechnik: Allgemeines VZ AR 474 2017 88-95 8 045F 540 |
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Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series |
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Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series |
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Yassaee, Vahid Reza |
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clinical, biochemical and molecular features of iranian families with mucopolysaccharidosis: a case series |
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Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series |
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This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. |
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This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. |
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This study aims to ascertain the genetic variants which contribute to the most common types of MPS in eleven Iranian families. Clinical and biochemical features were obtained during initial examination and patients were further investigated for genetic defects in the MPS genes. Peripheral blood samples were obtained from all family members after obtaining written informed consent. Based on the patient's clinical diagnosis, three different genetic tests including Sanger sequencing of four genes (IDUA, IDS, SGSH, and GALNS), targeted panel (10 genes) and Whole Exome Sequencing (WES) techniques were applied to identify the causative variants. A total of 12 different mutations were identified in five genes, including nine novel mutations and three previously reported missense mutations. Sanger sequencing confirmation of the identified mutations determined one case of compound heterozygous in the NAGLU gene. |
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Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series |
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Hashemi-Gorji, Feyzollah Miryounesi, Mohammad Rezayi, Alireza Ravesh, Zeinab Yassaee, Fakhrolmolouk Salehpour, Shadab |
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