期刊
HUMAN MUTATION
卷 38, 期 10, 页码 1360-1364出版社
WILEY
DOI: 10.1002/humu.23281
关键词
FLNB; genetic counseling; Larsen syndrome; mosaicism; next-generation sequencing; sperm
资金
- National Institute for Health Research (NIHR), Oxford Biomedical Research Centre Programme
- Wellcome (Senior Investigator Award) [102731]
- WIMM Strategic Alliance [G0902418, MC_UU_12025]
- Curekids
- Wellcome Trust [102731/Z/13/Z] Funding Source: Wellcome Trust
- National Institute for Health Research [CL-2015-26-001] Funding Source: researchfish
- Wellcome Trust [102731/Z/13/Z] Funding Source: researchfish
We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep next-generation sequencing (NGS) of DNA extracted from three somatic tissues (blood, fibroblasts, saliva) and a sperm sample. The mutationwas detectable in all tissues tested, at levels ranging from 7% to 10% (mutation present in similar to 20% of diploid somatic cells and 7% of haploid sperm), demonstrating the involvement of both somatic and gonadal lineages in this patient. This report illustrates the clinical utility of performing targeted NGS analysis on sperm from males with a mosaic condition in order to provide personalized transmission risk and offer evidence-based counseling on reproductive safety.
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