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Genotype‐phenotype correlation in patients with TSC2-PKD1 contiguous gene deletion syndrome
  • +14
  • Shunlai Shang,
  • Yan Mei,
  • Tao Wang,
  • Yu Dong,
  • Xinyi Zhang,
  • Yuanyuan Chang,
  • Xiaoyuan Wu,
  • Xiangdong Kong,
  • Mei Tan,
  • Li Wu,
  • Yingjie Zhang,
  • Xiaomin Liu,
  • Yunming Xiao,
  • Yuansheng Xie,
  • Guangyan Cai,
  • Qinggang Li,
  • Xiangmei Chen
Shunlai Shang
School of Medicine, Nankai University
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Yan Mei
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China
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Tao Wang
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China
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Yu Dong
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
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Xinyi Zhang
School of Medicine, Nankai University Tianjin; Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
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Yuanyuan Chang
Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China
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Xiaoyuan Wu
Beijing Tiantan hospital, Capital Medical University, Department of Nephrology
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Xiangdong Kong
the First Affiliated Hospital of Zhengzhou University
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Mei Tan
Guangzhou Women and Children's Medical Center
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Li Wu
Zhengzhou Central Hospital
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Yingjie Zhang
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
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Xiaomin Liu
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China
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Yunming Xiao
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
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Yuansheng Xie
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China
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Guangyan Cai
Department of Nephrology, Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
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Qinggang Li
Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China
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Xiangmei Chen
School of Medicine, Nankai University Tianjin; Chinese PLA General Hospital, Medical School of Chinese PLA, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
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Abstract

PKDTS is a progressive hereditary disease that leads to serious clinical symptoms and death. PKDTS cases are reported less frequently. Therefore, there are few studies on the correlation between genotype and phenotype. Similar studies on whether the missing fragments are concentrated in the thermogene are rare. Given the important value of diagnosing PKDTS, it is necessary to develop a diagnostic process. We firstly reported the clinical date of PKDTS patients in China ,also retrieved the case reports of PKDTS published in the past 22 years and summarized the clinical manifestations and genetic characteristics of these patients. Many PKDTS patients have the following symptoms: under 20 years of age, hemangiofibroma, multiple renal cysts, and mental retardation. We did not have find a relationship between clinical phenotype and genotype. The gene deletion of TSC2 and PKD1 is not a hotspot mutation. More reports with detailed clinical descriptions of PKDTS patients and Chinese patients show phenotypic heterogeneity. The gene deletion of TSC2 and PKD1 expanded the mutation database. Moreover, mTOR inhibitors are recommended for treatment. In addition, combining the advantages of exon sequencing and MLPA, we firstly developed a diagnostic process for the disease, which were helpful in detecting new PKDTS.