Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene
This study broadened the genetic variation spectrum of OTCD and provided substantial evidence for genetic counselling to affected families. Additionally, we elucidated variant data of OTC in Chinese patients through comprehensive literature review. Given the ongoing uncertainty surrounding the genotype-phenotype correlation of OTCD, the results of our in silico analysis can contribute to a deeper understanding of this complex, rare, and severe genetic disorder.
Authors
- Congcong Shi
- Xinzhuang Yang (ORCID: https://orcid.org/0000-0001-8345-9519)
- Ziting Deng (ORCID: https://orcid.org/0000-0001-9209-999X)
- Pan Liang (ORCID: https://orcid.org/0000-0002-7859-8319)
- Tao Wei (ORCID: https://orcid.org/0000-0001-5416-5140)
- Yu-Ran Zhang (ORCID: https://orcid.org/0000-0002-6893-2053)
- Lu Wang (ORCID: https://orcid.org/0000-0003-4525-3100)
- Hao Hu (ORCID: https://orcid.org/0000-0002-4604-6333)
- Dongfan Xiao (ORCID: https://orcid.org/0009-0002-2669-6803)
- Xia Gu (ORCID: https://orcid.org/0009-0003-8259-2934)
- Wei-Hua Lin (ORCID: https://orcid.org/0009-0004-0533-9836)
Institutions
- South China Agricultural University (CN)
- Sun Yat-sen University (CN)
- Sixth Affiliated Hospital of Sun Yat-sen University (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-18
- DOI
- https://doi.org/10.1186/s13023-025-03624-4
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Guangzhou Municipal Science and Technology Bureau