Genetic analysis of novel pathogenic gene HROB in a family with primary ovarian insufficiency
A 13-year and 6-month-old girl attended the Hunan Children's Hospital due to delayed menarche. The laboratory test results indicated increased follicle-stimulating hormone and luteinizing hormone, decreased anti-Mullerian hormone, and pelvic ultrasound showed a cord-like uterus and absence of bilateral ovaries. Her 11-year and 5-month-old younger sister had the same laboratory and imaging findings, and both girls were diagnosed with primary ovarian insufficiency. Whole exome sequencing and Sanger sequencing confirmed that the proband and her sister carried heterozygous variants of HROB gene c.718C>T (p.Arg240*) and c.1351C>T (p.Arg451*), which were inherited from their parents respectively and consistent with autosomal recessive inheritance. Oral estradiol valerate at an initial dose of 0.125 mg/d was given to the proband, and the secondary sexual characteristics began to develop after 6 months.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:52 |
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| Enthalten in: |
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 52(2023), 6 vom: 15. Dez., Seite 727-731 |
| Sprache: |
Englisch |
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| Weiterer Titel: |
原发性卵巢发育不全一家系HROB致病等位基因遗传学分析 |
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| Beteiligte Personen: |
Wu, Xinghan [VerfasserIn] |
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| Links: |
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| Themen: |
4TI98Z838E |
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| Anmerkungen: |
Date Completed 05.01.2024 Date Revised 05.01.2024 published: Electronic Citation Status MEDLINE |
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| doi: |
10.3724/zdxbyxb-2023-0468 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM365963933 |
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| 245 | 1 | 0 | |a Genetic analysis of novel pathogenic gene HROB in a family with primary ovarian insufficiency |
| 246 | 3 | 3 | |a 原发性卵巢发育不全一家系HROB致病等位基因遗传学分析 |
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| 500 | |a Date Revised 05.01.2024 | ||
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a A 13-year and 6-month-old girl attended the Hunan Children's Hospital due to delayed menarche. The laboratory test results indicated increased follicle-stimulating hormone and luteinizing hormone, decreased anti-Mullerian hormone, and pelvic ultrasound showed a cord-like uterus and absence of bilateral ovaries. Her 11-year and 5-month-old younger sister had the same laboratory and imaging findings, and both girls were diagnosed with primary ovarian insufficiency. Whole exome sequencing and Sanger sequencing confirmed that the proband and her sister carried heterozygous variants of HROB gene c.718C>T (p.Arg240*) and c.1351C>T (p.Arg451*), which were inherited from their parents respectively and consistent with autosomal recessive inheritance. Oral estradiol valerate at an initial dose of 0.125 mg/d was given to the proband, and the secondary sexual characteristics began to develop after 6 months | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Case report | |
| 650 | 4 | |a DNA damage repair | |
| 650 | 4 | |a HROB gene | |
| 650 | 4 | |a Homologous recombination | |
| 650 | 4 | |a Primary ovarian insufficiency | |
| 650 | 4 | |a Whole exome sequencing | |
| 650 | 7 | |a Luteinizing Hormone |2 NLM | |
| 650 | 7 | |a 9002-67-9 |2 NLM | |
| 650 | 7 | |a Estradiol |2 NLM | |
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| 700 | 1 | |a Peng, Xiangyun |e verfasserin |4 aut | |
| 700 | 1 | |a Zheng, Yu |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Shuju |e verfasserin |4 aut | |
| 700 | 1 | |a Peng, Yu |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Hua |e verfasserin |4 aut | |
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