Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees

被引：0

作者：

Yaojun Xie ^{[1
]}

Keyi Li ^{[2
]}

Li Yang ^{[3
]}

Xiaofei Zeng ^{[4
]}

Zhehui Chen ^{[3
]}

Xue Ma ^{[5
]}

Luyi Zhang ^{[5
]}

Yuwei Zhou ^{[3
]}

Liqin Jin ^{[3
]}

Yanling Yang ^{[6
]}

Xiaoting Lou ^{[5
]}

机构：

[1] Zhejiang Provincial People’s Hospital,Laboratory Medicine Center, Department of Genetic and Genomic Medicine

[2] Affiliated People’s Hospital,Genetics Center of Obstetrics and Gynecology

[3] Hangzhou Medical College,Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences

[4] Obstetrics and Gynecology Hospital of Fudan University,Department of Pediatrics, Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital

[5] Wenzhou Medical University,Department of Pediatrics

[6] Central South University,Department of Scientific Research

[7] Peking University First Hospital,undefined

[8] Zhejiang Provincial People’s Hospital,undefined

[9] Affiliated People’s Hospital,undefined

[10] Hangzhou Medical College,undefined

来源：

Orphanet Journal of Rare Diseases | / 19卷 / 1期

关键词：

Mitochondrial diseases; Oxidative phosphorylation; Genetic hotspot; τm; (s; )U modification;

D O I：

10.1186/s13023-024-03469-3

中图分类号：

学科分类号：

摘要：

引用

共 23 条

[1] Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
Nardecchia, Francesca
Carrozzo, Rosalba
Innocenti, Alice
Torraco, Alessandra
Zaccaria, Valerio
Rizza, Teresa
Pisani, Francesco
Bertini, Enrico
Leuzzi, Vincenzo
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2024, 11 (03): : 819 - 825
[2] The phenotypic spectrum of GTPBP3 mutation related disease: a case series
Bhayana, K.
Parikh, S.
ANNALS OF NEUROLOGY, 2022, 92 : S114 - S115
[3] Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China
Yan, Hui-ming
Liu, Zhi-mei
Cao, Bei
Zhang, Victor Wei
He, Yi-duo
Jia, Zheng-jun
Xi, Hui
Liu, Jing
Fang, Fang
Wang, Hua
FRONTIERS IN GENETICS, 2021, 12
[4] EXPANDING THE PHENOTYPIC SPECTRUM OF PSP: FINDINGS FROM THE PROSPECT-UK STUDY
Jabbari, Edwin
Woodside, John
Costantini, Alyssa
Lees, Andrew
Morris, Huw
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2019, 90 (12): : E11 - E11
[5] Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency
Knerr, Ina
Colombo, Roberto
Urquhart, Jill
Morais, Ana
Merinero, Begona
Oyarzabal, Alfonso
Perez, Belen
Jones, Simon A.
Perveen, Rahat
Preece, Mary A.
Rogers, Yvonne
Treacy, Eileen P.
Mayne, Philip
Zampino, Giuseppe
MacKinnon, Sabrina
Wassmer, Evangeline
Yue, Wyatt W.
Robinson, Ian
Rodriguez-Pombo, Pilar
Olpin, Simon E.
Banka, Siddharth
JOURNAL OF INHERITED METABOLIC DISEASE, 2019, 42 (05) : 809 - 817
[6] Expanding genetic landscape and phenotypic spectrum of 540 Chinese patients with Non-syndromic High Myopia
Cai, Xue-Bi
Zheng, Yi-Han
Jin, Zi-Bing
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
[7] Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency
Dionisi-Vici, Carlo
Shteyer, Eyal
Niceta, Marcello
Rizzo, Cristiano
Pode-Shakked, Ben
Chillemi, Giovanni
Bruselles, Alessandro
Semeraro, Michela
Barel, Ortal
Eyal, Eran
Kol, Nitzan
Haberman, Yael
Lahad, Avishai
Diomedi-Camassei, Francesca
Marek-Yagel, Dina
Rechavi, Gideon
Tartaglia, Marco
Anikster, Yair
JOURNAL OF INHERITED METABOLIC DISEASE, 2016, 39 (05) : 689 - 695
[8] Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
Duan, Ying
Zheng, Wanqi
Xia, Yu
Zhang, Huiwen
Liang, Lili
Wang, Ruifang
Yang, Yi
Zhang, Kaichuang
Lu, Deyun
Sun, Yuning
Han, Lianshu
Yu, Yongguo
Gu, Xuefan
Sun, Yu
Xiao, Bing
Qiu, Wenjuan
JOURNAL OF MEDICAL GENETICS, 2024, 61 (01) : 27 - 35
[9] Generation of patient-derived IPSC lines from a girl with Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by compound heterozygous GTPBP3 variants
Wang, Chunli
Yuan, Chang
Ji, Zhaoming
Yin, Jie
Zhang, Zhongman
Zhang, Han
Zheng, Bixia
Zhou, Wei
Yang, Shiwei
STEM CELL RESEARCH, 2022, 61
[10] Heterozygous HTRA1 Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees
Yao, Tingyan
Zhu, Junge
Wu, Xiao
Li, Xuying
Fu, Yongjuan
Wang, Yuan
Wang, Zhanjun
Xu, Fanci
Lai, Hong
He, Aini
Teng, Lianghong
Wang, Chaodong
Song, Haiqing
NEUROLOGY-GENETICS, 2022, 8 (06)

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