DNA was extracted from lymphocytes, and array comparative genomic hybridization analysis (Illumina Infinium CytoSNP-850K BeadChip, San Diego, CA) was performed to look for copy number variants, with manual analysis of MCDR1 and MCDR3. Whole blood was collected from the patient in an Ethylenediaminetetraacetic acid (EDTA) tube and DNA extracted using a standard automated method (QIAsymphony® AS instrument, Qiagen, Hombrechtikon,Switzerland) as recommended by the manufacturer. Sanger sequencing of the PRDM13 gene and the NCMD mutation hotspot 13 kb was performed by Molecular Vision Laboratory (Hillsboro, OR). Informed written consent was obtained from the family for genetic testing and for publication purpose. [6 (link)].
The research was conducted in accordance with the Declaration of Helsinki, and local institutional ethical requirements were met. The research, which adhered to ethical principles of medical research involving human subjects, was conducted in accordance with the Declaration of Helsinki, and local institutional ethical requirements were met.
The research was conducted in accordance with the Declaration of Helsinki, and local institutional ethical requirements were met. The research, which adhered to ethical principles of medical research involving human subjects, was conducted in accordance with the Declaration of Helsinki, and local institutional ethical requirements were met.
