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Two novel biallelic mutations in PSMC3IP in a Chinese patient affected by primary ovarian insufficiency: case report and review of the literature
Libin Mei
Xiamen University
Corresponding Author
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Background:
Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. It is one of the most common reproductive endocrine diseases in women of childbearing age. Here, we investigated the clinical manifestations and genetic features of a Chinese patient affected by POI.
Methods: We applied next-generation whole-exome capture sequencing with Sanger direct sequencing to the proband and her clinically unaffected family members.
Results: Two novel compound heterozygous mutations were identified in the PSMC3IP gene. The first is a splicing mutation (c.597+1G>T) that was inherited from her father, while the second mutation (c.268G>C p.D90H) was also discovered in her mother and younger sister. The two mutations were co-segregated with the disease phenotype in the family.
Conclusions: To our knowledge, this is the first report of PSMC3IP mutations causing POI in the Chinese population. Our findings further support the key role of the PSMC3IP gene in the etiology of POI. However, additional studies are required to explore the underlying molecular mechanisms involved.
Keywords
premature ovarian insufficiency, PSMC3IP, biallelic mutations, whole-exome sequencing
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This is a preprint. It has not completed peer review.
Research
Two novel biallelic mutations in PSMC3IP in a Chinese patient affected by primary ovarian insufficiency: case report and review of the literature
Libin Mei
Xiamen University
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
No community comments so far
Version 4
Posted 22 Jan, 2021
No comments provided
No comments provided
No comments provided
No comments provided
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
The most recent version of this article is available here.
Background:
Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. It is one of the most common reproductive endocrine diseases in women of childbearing age. Here, we investigated the clinical manifestations and genetic features of a Chinese patient affected by POI.
Methods: We applied next-generation whole-exome capture sequencing with Sanger direct sequencing to the proband and her clinically unaffected family members.
Results: Two novel compound heterozygous mutations were identified in the PSMC3IP gene. The first is a splicing mutation (c.597+1G>T) that was inherited from her father, while the second mutation (c.268G>C p.D90H) was also discovered in her mother and younger sister. The two mutations were co-segregated with the disease phenotype in the family.
Conclusions: To our knowledge, this is the first report of PSMC3IP mutations causing POI in the Chinese population. Our findings further support the key role of the PSMC3IP gene in the etiology of POI. However, additional studies are required to explore the underlying molecular mechanisms involved.
Figure 1
Figure 2
Figure 3
Figure 4