Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening

Minyi Tan; Xiulian Liu; Yinhong Zhang; Yifan Yin; Ting Chen; Yulin Li; Lulu Feng; Bo Zhu; Chunjing Xu; Chengfang Tang; Meng Sun; Liyun Jia; Weiwei Jin; Chunna Fan; Hui Huang; Xiaohua Wang; Jizhen Feng; Hui Zou; Lianshu Han; Jingkun Miao; Baosheng Zhu; Cidan Huang; Yonglan Huang

doi:10.1371/journal.pone.0310517

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Open Access

Peer-reviewed

Research Article

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening

Minyi Tan ,

Contributed equally to this work with: Minyi Tan, Xiulian Liu, Yinhong Zhang

Roles Conceptualization, Data curation, Formal analysis, Investigation, Writing – original draft, Writing – review & editing

Affiliation Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China
⨯
Xiulian Liu ,

Contributed equally to this work with: Minyi Tan, Xiulian Liu, Yinhong Zhang

Roles Formal analysis, Investigation, Writing – review & editing

Affiliation Department of Neonatal Disease Screening Center, Hainan Women and Children’s Medical Center, Hainan, Haikou, China
⨯
Yinhong Zhang ,

Contributed equally to this work with: Minyi Tan, Xiulian Liu, Yinhong Zhang

Roles Formal analysis, Investigation, Writing – review & editing

Affiliation Department of Medical Genetics, The First People’s Hospital of Yunnan Province, National Health Commission Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China
⨯
Yifan Yin,

Roles Formal analysis, Investigation

Affiliation Department of Pediatrics, Chongqing Health Center for Women and Children &Women and Children’s Hospital of Chongqing Medical University, Chongqing, China
⨯
Ting Chen,

Roles Formal analysis, Investigation

Affiliation Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
⨯
Yulin Li,

Roles Formal analysis, Investigation

Affiliation Department of Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital affiliated to Shandong First Medical University, Jinan, China
⨯
Lulu Feng,

Roles Formal analysis, Investigation

Affiliation Department of Genetic, Shijiazhuang Maternal and Child Health Hospital, Hebei Shijiazhuang, China
⨯
Bo Zhu,

Roles Formal analysis, Investigation

Affiliation Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, Inner Mongolia, Hohhot, China
⨯
Chunjing Xu,

Roles Data curation, Investigation, Validation

Affiliations BGI Genomics, BGI-Shenzhen, Shenzhen, China, Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China
⨯
Chengfang Tang,

Roles Writing – review & editing

Affiliation Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China
⨯
Meng Sun,

Roles Formal analysis, Investigation

Affiliation Department of Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital affiliated to Shandong First Medical University, Jinan, China
⨯
Liyun Jia,

Roles Formal analysis, Investigation

Affiliation Department of Genetic, Shijiazhuang Maternal and Child Health Hospital, Hebei Shijiazhuang, China
⨯
Weiwei Jin,

Roles Data curation, Investigation, Software

Affiliations BGI Genomics, BGI-Shenzhen, Shenzhen, China, Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China
⨯
Chunna Fan,

Roles Data curation, Formal analysis, Software, Validation

Affiliations BGI Genomics, BGI-Shenzhen, Shenzhen, China, Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, China, College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China
⨯
Hui Huang,

Roles Funding acquisition, Project administration, Resources

Affiliation BGI Genomics, BGI-Shenzhen, Shenzhen, China
⨯
Xiaohua Wang,

Roles Project administration, Resources

Affiliation Department of Genetics, Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, Inner Mongolia, Hohhot, China
⨯
Jizhen Feng,

Roles Project administration, Resources

Affiliation Department of Genetic, Shijiazhuang Maternal and Child Health Hospital, Hebei Shijiazhuang, China
⨯
Hui Zou,

Roles Project administration, Resources

Affiliation Department of Neonatal Disease Screening Center, Jinan Maternity and Child Health Hospital affiliated to Shandong First Medical University, Jinan, China
⨯
Lianshu Han,

Roles Conceptualization, Funding acquisition, Project administration, Resources, Writing – review & editing

Affiliation Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
⨯
Jingkun Miao,

Roles Project administration, Resources

Affiliation Department of Pediatrics, Chongqing Health Center for Women and Children &Women and Children’s Hospital of Chongqing Medical University, Chongqing, China
⨯
Baosheng Zhu,

Roles Project administration, Resources

Affiliation Department of Medical Genetics, The First People’s Hospital of Yunnan Province, National Health Commission Key Laboratory of Preconception Health Birth in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Yunnan Provincial Clinical Research Center for Birth Defects and Rare Diseases, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China

https://orcid.org/0000-0002-5991-1752

⨯
Cidan Huang ,

Roles Project administration, Resources

* E-mail: xxhuang321@163.com (YH); 993957251@qq.com (CH)

Affiliation Department of Neonatal Disease Screening Center, Hainan Women and Children’s Medical Center, Hainan, Haikou, China
⨯
[ ... ],
Yonglan Huang

Roles Conceptualization, Funding acquisition, Methodology, Project administration, Resources, Writing – review & editing

* E-mail: xxhuang321@163.com (YH); 993957251@qq.com (CH)

Affiliation Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou Medical University, Guangzhou, China

https://orcid.org/0000-0002-7527-3754

⨯
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Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening

Minyi Tan,
Xiulian Liu,
Yinhong Zhang,
Yifan Yin,
Ting Chen,
Yulin Li,
Lulu Feng,
Bo Zhu,
Chunjing Xu,
Chengfang Tang

Published: October 22, 2024
https://doi.org/10.1371/journal.pone.0310517

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