| Autor: |
Okada H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan., Tada H; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan., Nomura A; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan., Nohara A; Department of Genetics, Ishikawa Prefectural Central Hospital, Japan., Okeie K; Department of Cardiology, Koseiren Takaoka Hospital, Japan., Nozue T; Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Japan., Michishita I; Division of Cardiology, Department of Internal Medicine, Yokohama Sakae Kyosai Hospital, Japan., Takamura M; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan., Takemura H; Department of Cardiovascular Surgery, Kanazawa University, Japan., Kawashiri MA; Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Japan. |
| Abstrakt: |
Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder, and a genetic analysis is important to make a definitive diagnosis. A comprehensive genetic analysis using next generation sequencing (NGS) and whole exome sequencing (WES) is feasible. However, the application of NGS in the assessment of genomic structural variations is generally limited, and a substantial number of control samples are needed for such assessments. Thus, NGS alone is unlikely to detect genomic structural variations in a "singleton." We present the case of a patient with compound HeFH (heterozygous FH), whose causative mutations in the LDLR gene could not be identified by WES, necessitating the application of the multiplex ligation-dependent probe amplification (MLPA) technique. |
