Identification of paternal germline mosaicism by MicroSeq and targeted next-generation sequencing.

ABSTRACT:

Background

Prezygotic de novo mutations may be inherited from parents with germline mosaicism and are often overlooked when the resulting phenotype affects only one child. We aimed to identify paternal germline mosaicism in an index family and provide a strategy to determine germline mosaicism.'

Methods

Whole-exome sequencing was performed on an Alport syndrome-affected child. Variants were validated using Sanger sequencing in the pedigree analysis. An apparent de novo mutation was tested by next-generation sequencing (NGS) following chromosome microdissection of the mutant region (MicroSeq) to clarify its homologous chromosome source. Mosaic mutation in sperm samples was detected using targeted next-generation sequencing (TNGS). Self-prepared mosaic DNA samples of the 3% an

SUBMITTER: Dai C 

PROVIDER: S-EPMC7507370 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature