ArticleAmerican journal of human genetics2017
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35 citing papers in PubMed, 76 citations in OpenAlex.
- The germline landscape of pituitary adenomas: established and emerging predisposition genes.The Journal of clinical endocrinology and metabolism · 2026Review
- Molecular biology of pituitary neuroendocrine tumors.Journal of neuro-oncology · 2026Review
- A novel germline CDH23 variant as a likely cause of an ultra-giant prolactinoma.Orphanet journal of rare diseases · 2026Article
- Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing.Scientific reports · 2025Article
- Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.Journal of clinical & translational endocrinology · 2025Article
- Liquid Biopsy in Pituitary Neuroendocrine Tumors-Potential Biomarkers for Diagnosis, Prognosis, and Therapy.International journal of molecular sciences · 2025Review
- A Nexus of Biomolecular Complexities in Pituitary Neuroendocrine Tumors: Insights into Key Molecular Drivers.Biomedicines · 2025Review
- Cadherin 23 is a prognostic marker of pancreatic cancer and promotes cell viability in floating culture conditions.International journal of medical sciences · 2025Article
- Germline Variants in Sporadic Pituitary Adenomas.Journal of the Endocrine Society · 2024Article
- Identification of tumor antigens and immune subtypes of acute myeloid leukemia for mRNA vaccine development.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Article
- Progressive Transcriptional Changes in the Amygdala Implicate Neuroinflammation in the Effects of Repetitive Low-Level Blast Exposure in Male Rats.Journal of neurotrauma · 2023Article
- Case report: Identification of potential prognosis-related LAG3 overexpression and DICER1 mutation in pituitary carcinoma: two cases.Frontiers in neuroscience · 2023Article
- Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.Cell research · 2022Article
- Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples.Genome biology · 2022Article
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- A Common Variant in theInternational journal of molecular sciences · 2022Article
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- Genetic Basis of ACTH-Secreting Adenomas.International journal of molecular sciences · 2022Review
- Role of CDH23 as a prognostic biomarker and its relationship with immune infiltration in acute myeloid leukemia.BMC cancer · 2022Article
- Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.Molecular biology reports · 2020Article
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Authors and funding
34 authors at 4 institutions in 3 countries.
Qilin ZhangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Cheng PengShanghai Institute of Immunology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Jianping SongDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Yichao ZhangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Jianhua ChenBio-X Institutes, Ministry of Education Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai 200030, China; Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.
Zhijian SongBio-X Institutes, Ministry of Education Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai 200030, China.
Xuefei ShouDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Zengyi MaDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Hong PengShanghai Institute of Immunology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Xuemin JianBio-X Institutes, Ministry of Education Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai 200030, China.
Wenqiang HeDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Zhao YeDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Zhiqiang LiBio-X Institutes, Ministry of Education Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai 200030, China.
Yongfei WangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Hongying YeShanghai Pituitary Tumor Center, Shanghai 200040, China; Department of Endocrinology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Zhaoyun ZhangShanghai Pituitary Tumor Center, Shanghai 200040, China; Department of Endocrinology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Ming ShenDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Feng TangShanghai Pituitary Tumor Center, Shanghai 200040, China; Department of Pathology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Hong ChenShanghai Pituitary Tumor Center, Shanghai 200040, China; Department of Pathology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Zhifeng ShiDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Chunjui ChenDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Zhengyuan ChenDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Yue ShenDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Ye WangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Shaoyong LuDepartment of Pathophysiology, Key Laboratory of Cell Differentiation and Apoptosis of Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Jian ZhangDepartment of Pathophysiology, Key Laboratory of Cell Differentiation and Apoptosis of Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Yiming LiShanghai Pituitary Tumor Center, Shanghai 200040, China; Department of Endocrinology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Shiqi LiDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Ying MaoDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China; State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai 200040, China; Institute of Neurosurgery, Shanghai Medical College, Fudan University, Shanghai 200040, China.
Liangfu ZhouDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China.
Hai YanDepartment of Pathology, Preston Robert Tisch Brain Tumor Center, Duke University Medical Center, Durham, NC 27710, USA.
Yongyong ShiBio-X Institutes, Ministry of Education Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai 200030, China; Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University, Shanghai 200030, China; Department of Psychiatry, First Teaching Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China; Biomedical Sciences Institute of Qingdao University, Qingdao Branch of SJTU Bio-X Institutes and the Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China.
Chuanxin HuangShanghai Institute of Immunology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China. Electronic address: huangcx@shsmu.edu.cn.
Yao ZhaoDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai 200040, China; Shanghai Pituitary Tumor Center, Shanghai 200040, China; State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, Shanghai 200040, China; Institute of Neurosurgery, Shanghai Medical College, Fudan University, Shanghai 200040, China. Electronic address: zhaoyaohs@vip.sina.com.
Shanghai Medical College of Fudan University · CNShanghai Jiao Tong University · CNDuke Medical Center · USQingdao University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pituitary adenoma (PA) is one of the most common intracranial neoplasms. Several genetic predisposing factors for PA have been identified, but they account for a small portion of cases. In this study, we sought to identify the PA genetic risk factors by focusing on causative mutations for PAs. Among the 4 affected and 17 asymptomatic members from one family with familial PA, whole-exome sequencing identified cosegregation of the PA phenotype with the heterozygous missense mutation c.4136G>T (p.Arg1379Leu) in cadherin-related 23 (CDH23). This mutation causes an amino acid substitution in the calcium-binding motif of the extracellular cadherin (EC) domains of CDH23 and is predicted to impair cell-cell adhesion. Genomic screening in a total of 12 families with familial PA (20 individuals), 125 individuals with sporadic PA, and 260 control individuals showed that 33% of the families with familial PA (4/12) and 12% of individuals with sporadic PA (15/125) harbored functional CDH23 variants. In contrast, 0.8% of the healthy control individuals (2/260) carried functional CDH23 variants. Gene-based analysis also revealed a significant association between CDH23 genotype and PA (p = 5.54 × 10
Indexed as
Germ-Line MutationAmino Acid SequenceCadherin Related ProteinsCadherinsCase-Control StudiesCell AdhesionGenomicsHeterozygoteHumansPedigreePhenotypePituitary NeoplasmsProtein ConformationRisk FactorsCadherin Related ProteinsCadherinsCDH23 protein, humanCDH23familial pituitary adenomamutationpituitary adenomawhole-exome sequencing
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