Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma. Gao, L., Zhang, F., Hejtmancik, J. F., Jiao, X., Jia, L., Peng, X., Ma, K., & Li, Q. Genes, 15(9):1192, September, 2024. doi abstract bibtex Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal primer quantitative fluorescent multiplex-polymerase chain reaction (UPQFM-PCR) were employed for mutation detection in the coding region of the Von Hippel-Lindal (VHL) gene. For frequency calculation, our series was combined with three large cohorts of East Asian descent through a literature review. Results: The Von Hippel-Lindal (VHL) syndrome was excluded in fifteen patients (median age: 32.00 years) with unilateral solitary RH. Thirty-six patients of younger ages (median: 22.00 years, p = 0.008, Mann-Whitney test) conformed to the diagnostic criteria of the VHL syndrome, and thirty-four patients were genetically confirmed. There were four novel variants identified in the VHL gene. Codons 167, 161 and 86 exhibited a mutation occurrence of more than 5% after pooling with literature data, and the large genomic deletion demonstrated a frequency of 17.65%. The RHs were classified as "extrapapillary", "juxtapapillary" and "mixed" types in 53, 7 and 5 eyes, respectively. Almost all extrapapillary RH lesions were found in the peripheral retina. Hemangioblastomas in the central nervous system (CNS) were observed in 25 out of 31 kindreds (80.65%) with full systemic evaluation data. Conclusions: VHL-associated RH might exhibit earlier onset than non-VHL RH. Large genomic deletions were observed at a notably high frequency in the Chinese series with VHL-associated RH, which might be associated with East Asian ethnicity background. RH could potentially serve as an early indicator of CNS hemangioblastoma.
@article{gao_phenotypic_2024,
title = {Phenotypic and {Genotypic} {Features} of a {Chinese} {Cohort} with {Retinal} {Hemangioblastoma}},
volume = {15},
issn = {2073-4425},
doi = {10.3390/genes15091192},
abstract = {Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal primer quantitative fluorescent multiplex-polymerase chain reaction (UPQFM-PCR) were employed for mutation detection in the coding region of the Von Hippel-Lindal (VHL) gene. For frequency calculation, our series was combined with three large cohorts of East Asian descent through a literature review. Results: The Von Hippel-Lindal (VHL) syndrome was excluded in fifteen patients (median age: 32.00 years) with unilateral solitary RH. Thirty-six patients of younger ages (median: 22.00 years, p = 0.008, Mann-Whitney test) conformed to the diagnostic criteria of the VHL syndrome, and thirty-four patients were genetically confirmed. There were four novel variants identified in the VHL gene. Codons 167, 161 and 86 exhibited a mutation occurrence of more than 5\% after pooling with literature data, and the large genomic deletion demonstrated a frequency of 17.65\%. The RHs were classified as "extrapapillary", "juxtapapillary" and "mixed" types in 53, 7 and 5 eyes, respectively. Almost all extrapapillary RH lesions were found in the peripheral retina. Hemangioblastomas in the central nervous system (CNS) were observed in 25 out of 31 kindreds (80.65\%) with full systemic evaluation data. Conclusions: VHL-associated RH might exhibit earlier onset than non-VHL RH. Large genomic deletions were observed at a notably high frequency in the Chinese series with VHL-associated RH, which might be associated with East Asian ethnicity background. RH could potentially serve as an early indicator of CNS hemangioblastoma.},
language = {eng},
number = {9},
journal = {Genes},
author = {Gao, Liqin and Zhang, Feng and Hejtmancik, J. Fielding and Jiao, Xiaodong and Jia, Liyun and Peng, Xiaoyan and Ma, Kai and Li, Qian},
month = sep,
year = {2024},
pmid = {39336783},
pmcid = {PMC11431690},
keywords = {Adolescent, Adult, Aged, Child, Child, Preschool, China, Cohort Studies, East Asian People, Female, Genotype, Hemangioblastoma, Humans, Male, Middle Aged, Mutation, Phenotype, Retinal Neoplasms, Von Hippel-Lindau Tumor Suppressor Protein, Von Hippel–Lindau gene (VHL), Young Adult, genotype, large genomic deletion, phenotype, retinal hemangioblastoma, von Hippel-Lindau Disease},
pages = {1192},
}
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{"_id":"eYuSb4nyS9iRsRPYe","bibbaseid":"gao-zhang-hejtmancik-jiao-jia-peng-ma-li-phenotypicandgenotypicfeaturesofachinesecohortwithretinalhemangioblastoma-2024","author_short":["Gao, L.","Zhang, F.","Hejtmancik, J. F.","Jiao, X.","Jia, L.","Peng, X.","Ma, K.","Li, Q."],"bibdata":{"bibtype":"article","type":"article","title":"Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma","volume":"15","issn":"2073-4425","doi":"10.3390/genes15091192","abstract":"Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal primer quantitative fluorescent multiplex-polymerase chain reaction (UPQFM-PCR) were employed for mutation detection in the coding region of the Von Hippel-Lindal (VHL) gene. For frequency calculation, our series was combined with three large cohorts of East Asian descent through a literature review. Results: The Von Hippel-Lindal (VHL) syndrome was excluded in fifteen patients (median age: 32.00 years) with unilateral solitary RH. Thirty-six patients of younger ages (median: 22.00 years, p = 0.008, Mann-Whitney test) conformed to the diagnostic criteria of the VHL syndrome, and thirty-four patients were genetically confirmed. There were four novel variants identified in the VHL gene. Codons 167, 161 and 86 exhibited a mutation occurrence of more than 5% after pooling with literature data, and the large genomic deletion demonstrated a frequency of 17.65%. The RHs were classified as \"extrapapillary\", \"juxtapapillary\" and \"mixed\" types in 53, 7 and 5 eyes, respectively. Almost all extrapapillary RH lesions were found in the peripheral retina. Hemangioblastomas in the central nervous system (CNS) were observed in 25 out of 31 kindreds (80.65%) with full systemic evaluation data. Conclusions: VHL-associated RH might exhibit earlier onset than non-VHL RH. Large genomic deletions were observed at a notably high frequency in the Chinese series with VHL-associated RH, which might be associated with East Asian ethnicity background. RH could potentially serve as an early indicator of CNS hemangioblastoma.","language":"eng","number":"9","journal":"Genes","author":[{"propositions":[],"lastnames":["Gao"],"firstnames":["Liqin"],"suffixes":[]},{"propositions":[],"lastnames":["Zhang"],"firstnames":["Feng"],"suffixes":[]},{"propositions":[],"lastnames":["Hejtmancik"],"firstnames":["J.","Fielding"],"suffixes":[]},{"propositions":[],"lastnames":["Jiao"],"firstnames":["Xiaodong"],"suffixes":[]},{"propositions":[],"lastnames":["Jia"],"firstnames":["Liyun"],"suffixes":[]},{"propositions":[],"lastnames":["Peng"],"firstnames":["Xiaoyan"],"suffixes":[]},{"propositions":[],"lastnames":["Ma"],"firstnames":["Kai"],"suffixes":[]},{"propositions":[],"lastnames":["Li"],"firstnames":["Qian"],"suffixes":[]}],"month":"September","year":"2024","pmid":"39336783","pmcid":"PMC11431690","keywords":"Adolescent, Adult, Aged, Child, Child, Preschool, China, Cohort Studies, East Asian People, Female, Genotype, Hemangioblastoma, Humans, Male, Middle Aged, Mutation, Phenotype, Retinal Neoplasms, Von Hippel-Lindau Tumor Suppressor Protein, Von Hippel–Lindau gene (VHL), Young Adult, genotype, large genomic deletion, phenotype, retinal hemangioblastoma, von Hippel-Lindau Disease","pages":"1192","bibtex":"@article{gao_phenotypic_2024,\n\ttitle = {Phenotypic and {Genotypic} {Features} of a {Chinese} {Cohort} with {Retinal} {Hemangioblastoma}},\n\tvolume = {15},\n\tissn = {2073-4425},\n\tdoi = {10.3390/genes15091192},\n\tabstract = {Purpose: To delineate the genotype and phenotype of RH in a Chinese cohort. Methods: A group of 51 Chinese probands with RH across 76 eyes was assembled and underwent complete retinal imaging examinations. Sanger sequencing and universal primer quantitative fluorescent multiplex-polymerase chain reaction (UPQFM-PCR) were employed for mutation detection in the coding region of the Von Hippel-Lindal (VHL) gene. For frequency calculation, our series was combined with three large cohorts of East Asian descent through a literature review. Results: The Von Hippel-Lindal (VHL) syndrome was excluded in fifteen patients (median age: 32.00 years) with unilateral solitary RH. Thirty-six patients of younger ages (median: 22.00 years, p = 0.008, Mann-Whitney test) conformed to the diagnostic criteria of the VHL syndrome, and thirty-four patients were genetically confirmed. There were four novel variants identified in the VHL gene. Codons 167, 161 and 86 exhibited a mutation occurrence of more than 5\\% after pooling with literature data, and the large genomic deletion demonstrated a frequency of 17.65\\%. The RHs were classified as \"extrapapillary\", \"juxtapapillary\" and \"mixed\" types in 53, 7 and 5 eyes, respectively. Almost all extrapapillary RH lesions were found in the peripheral retina. Hemangioblastomas in the central nervous system (CNS) were observed in 25 out of 31 kindreds (80.65\\%) with full systemic evaluation data. Conclusions: VHL-associated RH might exhibit earlier onset than non-VHL RH. Large genomic deletions were observed at a notably high frequency in the Chinese series with VHL-associated RH, which might be associated with East Asian ethnicity background. RH could potentially serve as an early indicator of CNS hemangioblastoma.},\n\tlanguage = {eng},\n\tnumber = {9},\n\tjournal = {Genes},\n\tauthor = {Gao, Liqin and Zhang, Feng and Hejtmancik, J. Fielding and Jiao, Xiaodong and Jia, Liyun and Peng, Xiaoyan and Ma, Kai and Li, Qian},\n\tmonth = sep,\n\tyear = {2024},\n\tpmid = {39336783},\n\tpmcid = {PMC11431690},\n\tkeywords = {Adolescent, Adult, Aged, Child, Child, Preschool, China, Cohort Studies, East Asian People, Female, Genotype, Hemangioblastoma, Humans, Male, Middle Aged, Mutation, Phenotype, Retinal Neoplasms, Von Hippel-Lindau Tumor Suppressor Protein, Von Hippel–Lindau gene (VHL), Young Adult, genotype, large genomic deletion, phenotype, retinal hemangioblastoma, von Hippel-Lindau Disease},\n\tpages = {1192},\n}\n\n\n\n\n\n\n\n\n\n\n\n","author_short":["Gao, L.","Zhang, F.","Hejtmancik, J. 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