Application of whole exome sequencing in the diagnosis of Danon disease: annex 1 pedigree report
Kunlun Yin, Yi Ma, Min Zhang, Tianjiao Li, Bianmei Han, Xuewen Liu, Yujing Zhang, Renping Wang, Zhou Zhou
Abstract
ObjectiveUsing whole exome sequencing (WES) to help to make a definite diagnosis for confusing cases at clinical practice.
MethodsA 29-year old proband with clinical manifestations of mild myocardial hypertrophy and skeletal myopathy, muscle biopsy suggested multiple minimal axonal disease. WES was applied to find the possible pathogenic gene mutations and verified in the proband and her relatives with Sanger sequencing.
ResultsA likely pathogenic heterogeneous variant LAMP2 c.974delT (p. Leu325fs) located on the X chromosome was detected in the proband, and LAMP2 encodes a type Ⅱ lysosome-associated membrane protein associated with Danon disease. Her younger brother with similar echocardiographic and muscle biopsy results also carried this hemizygous variant, but other healthy relatives including her father was negative for this variant. Therefore, there is a co-segregation of this variant with the disease in this family.
ConclusionsFor those confusing cases which can′t be accurately diagnosed according to clinical manifestations and routine examination results, WES may be a more feasible and effective method for the differential diagnosis.
Key words:
Danon disease; LAMP2 gene; Whole exome sequencing
Contributor Information
Kunlun Yin
Center of Laboratory Medicine, Fuwai Hospital, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100030, China
Yi Ma
Center of Laboratory Medicine, Fuwai Hospital, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100030, China
Min Zhang
Department of Cardiology, Shijiazhuang Great Wall Hospital of Integrated Traditional Chinese and Western Medicine, Shijiazhuang 050035, China
Tianjiao Li
Center of Laboratory Medicine, Fuwai Hospital, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100030, China
Bianmei Han
Center of Laboratory Medicine, Fuwai Hospital, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100030, China
Xuewen Liu
Center of Laboratory Medicine, Fuwai Hospital, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100030, China
Yujing Zhang
Center of Laboratory Medicine, Fuwai Hospital, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100030, China
Renping Wang
Department of Cardiology, Shijiazhuang Great Wall Hospital of Integrated Traditional Chinese and Western Medicine, Shijiazhuang 050035, China
Zhou Zhou
Center of Laboratory Medicine, Fuwai Hospital, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100030, China
