Project's information

Project's title Research on genetic modification in Vietnamese patients with Androgen insensitivity syndrome by using Next-Generation sequencing method
Project’s code GUST.STS.ĐT2020-SH01
Research hosting institution Graduate University of Science and Technology
Project leader’s name PhD. Nguyen Thu Hien
Project duration 01/06/2020 - 30/06/2022
Project’s budget 300 million VND
Classify Excellent
Goal and objectives of the project

- Determining the cause of the disease by molecular genetic analysis in some Vietnamese patients with androgen insensitivity syndrome.

Main results

Theoretical results: This project perfomred whole exome sequencing for eight patients with disorders of sex development. After filtering, We have detected 08 pathogenic mutations in 8 patients. in which there are 04 new mutations and 04 mutations have been announced, as follows:
+ 04 new mutations are: c.1834T>A (p.Cys612Ser) detected in patient AIS 1, c.2122C>G (p.Leu708Val) detected in patient AIS 2, c.2630T>G ( p.Phe877Cys) detected in patient AIS 3, c.2641C>A (p.Leu881Met) detected in patient AIS 5.
+ + 04 mutations have been published: c.2194G>A (p.Asp732Asn) detected in patients AIS 4, c2494C>T (p.Arg832Ter) detected in patients with AIS 6, c.2191G> A (p.Val731Met) detected in patient AIS 7, c.1741G>T (p.Val581Phe) detected in patient AIS 8.
Applied results: These findings help doctors to obtain better managements for patients. Doctors provide genetic counseling to the patient's family, especially if parents want to have more children. The findings also expand the spectrum of phenotype and genotype ò the  spectrum and genotype of the diseases.

Novelty and actuality and scientific meaningfulness of the results

This project identified 04 new mutations:  c.1834T>A (p.Cys612Ser), c.2122C>G (p.Leu708Val),  c.2630T>G ( p.Phe877Cys), c.2641C>A (p.Leu881Met) in AIS 1, AIS 2, AIS 3, AIS 5, respectively.

Products of the project

Products of science and technology
- 08 records of patients and members in the families.
- 01 datasets of whole exome sequencing of 08 patients with androgen insensitivity syndrome.
- 01 dataset of pathogenic variants in the patients.
Scientific papers in referred journals
- 01 articles in journals:
+  Thu Hien Nguyen, Duc Quan Nguyen, Lien Nguyen Thi Kim, Thanh Ngan Nguyen   Thi, Thi Phuong Mai Nguyen, Ngoc Dung Tran, Huy Hoang Nguyen. Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome. 2022 Apr 21. doi: 10.1007/s13258-022-01249-6. Online ahead of print.
- 02 article in prestigious national journal:
+ Thu HienNguyen, Lien Nguyen Thi Kim, Thanh Ngan Nguyen Thi, Huong Giang Tran Thi, Hong Nhung Nguyen, Nguyen Thi Phuong Mai, Huy Hoang Nguyen. Detection of c.G2194A mutation in AR gene of a vietnamese patient with androgen insensitivity syndrome: a case report. ACADEMIA JOURNAL OF BIOLOGY, ISSN 2615-9023.
+  Nguyen Thi Phuong Mai, Vu Chi Dung, Nguyen Thi Mai Huong, Ngo Manh Tien, Pham Thu Huong, Ngo Diem Ngoc, Nguyen Ngoc Khanh, Can Thi Bich Ngoc, Bui Phuong Thao, Nguyen Huy Hoang, Nguyen Thi Kim Lien, Nguyen Thi Thanh Ngan, Nguyen Thu Hien. Detection of AR gene mutations in patiens with androgen insentivity syndrome. Vietnamese Medical Journal, volume 497-December 2020 special issue, pp. 13-20.

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