| Accession |
PRJCA004970 |
| Title |
Novel Mutations in GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: first three cases from China |
| Relevance |
Mitochondrial disease |
| Data types |
Whole genome sequencing
|
| Organisms |
Homo sapiens
|
| Description |
We report a case series of three patients withCombined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by GTPBP3 mutations from severe to mild phenotype. Whole genome sequencing and targeted panels of candidate human mitochondrial genome revealed that the Patient #1 was a compound heterozygote with novel mutations c.413C>T (p. A138V) and c.509_510del (p. E170Gfs*42) in GTPBP3. Patient #2 was a compound heterozygote with novel mutations c.544G>T (p. G182X) and c.785A>C (p.Q262P), while Patient #3 was a compound heterozygote with a previously reported mutation c.424G>A (p.E142K) and novel mutation c.785A>C (p.Q262P). In conclusion, we firstly describe three Chinese individuals with COXPD23, and discuss the genotype-phenotype correlations of GTPBP3 mutations. Our findings provide novel information in the diagnosis and genetic counselling of patients with mitochondrial disease. |
| Sample scope |
Multiisolate |
| Release date |
2021-05-08 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 34276756
|
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China
|
Frontiers in Genetics
|
10.3389/fgene.2021.611226
|
2021
|
|
|
| Data provider |
|
| Grants |
| Agency |
program |
Grant ID |
Grant title |
| Science and Technology Department of Hunan Province
|
|
2019SK1010
|
|
| Major Medical Collaboration and Innovation Program of Guangzhou Science Technology and Innovation Commission
|
|
201604020020
|
|
| Science and Technology Department of Hunan Province
|
|
2017SK50803
|
|
|
|
| Submitter |
WANG
Hua (wanghua_213@126.com)
|
| Organization |
Hunan Maternal and Child Health Hospital |
| Submission date |
2021-05-08 |
