Whole exome sequencing identified a pathogenic variant c.1620C>G in the <i> FGFR3  </i> gene in a Vietnamese patient

Duc Tien Nguyen; Thi Thanh Ngan Nguyen; Ngoc Lan Nguyen; Thi Anh Thuong Tran; Thi Bich Ngoc Can; Chi Dung Vu; Van Tung Nguyen; Thi Kim Lien Nguyen; Thanh Hien Nguyen; Duc Quan Nguyen; Thi Huong Giang Tran; Ke Long Phan; Huy Hoang Nguyen

doi:10.15625/vjbt-22379

Author affiliations

Authors

Duc Tien Nguyen $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam
$^{2}$ Graduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam
$^{3}$ 19-8 Hospital, Ministry of Public Security, No. 9 Tran Binh street, Mai Dich ward, Cau Giay district, Hanoi, Vietnam
Thi Thanh Ngan Nguyen $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam
Ngoc Lan Nguyen $^{4}$ Center for Gene and Protein Research, Hanoi Medical University, 1 Ton That Tung street, Dong Da, Hanoi, Vietnam
Thi Anh Thuong Tran $^{5}$ Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children’s Hospital, 18/879 La Thanh, Dong Da, Hanoi, Vietnam. https://orcid.org/0009-0003-5539-2574
Thi Bich Ngoc Can $^{5}$ Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children’s Hospital, 18/879 La Thanh, Dong Da, Hanoi, Vietnam.
Chi Dung Vu $^{5}$ Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children’s Hospital, 18/879 La Thanh, Dong Da, Hanoi, Vietnam. https://orcid.org/0009-0007-0418-2613
Van Tung Nguyen $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam https://orcid.org/0000-0003-4624-5567
Thi Kim Lien Nguyen $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam https://orcid.org/0000-0001-9294-6722
Thanh Hien Nguyen $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam
Duc Quan Nguyen $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam https://orcid.org/0000-0002-8152-5700
Thi Huong Giang Tran $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam
Ke Long Phan $^{6}$ Vietnam National Museum of Nature, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam. https://orcid.org/0000-0003-4998-260X
Huy Hoang Nguyen $^{1}$ Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet, Cau Giay, Hanoi, Vietnam

DOI:

https://doi.org/10.15625/vjbt-22379

Keywords:

c.1620C>G, FGFR3, hypochondroplasia, p.N540K, Vietnamese patient

Abstract

Fibroblast growth factor receptor (FGFR3)-related diseases can present a wide spectrum of symptoms, ranging from mild shortening of limbs to lethal skeletal dysplasia. Diagnosing FGFR3-related diseases can be challenging given phenotypic overlap with other skeletal dysplasia. The appropriate diagnosis of FGFR3-related diseases relies on a combination of clinical and radio-imaging data, and molecular analyses. In this report, we present a Vietnamese female with short stature, shortening of long bones, short and broad femoral neck, and squared and shortened ilia. Whole exome sequencing and variant filtering were performed in the proband to identify a disease-causing variant. Sanger sequencing was carried out to confirm the presence of the variant in the proband as well as in her parents. The result showed that a c.1620C>G (p.N540K) in the FGFR3 gene was found in the proband. The parents and sister carried normal alleles. The variant in the proband is de novo. The variant was classified as a pathogenic variant in the ClinVar database. Therefore, the proband was diagnosed with hypochondroplasia. This is the first report of pathogenic variant c.1620C>G (p.N540K) in the FGFR3 gene identified in the Vietnamese patient.

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References

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