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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants. | LitMetric

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.

Hum Genomics

Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Room 115, 1/F, New Clinical Building, Pok Fu Lam, Hong Kong SAR, China.

Published: October 2023

AI Article Synopsis

  • Mosaicism is when an individual has genetically different cell populations from the same original zygote, and past studies suggested parental mosaicism could be anywhere from 0.33% to 25.9%.
  • In this research, parents of children with developmental disorders who had a de novo variant were studied, collecting various biological samples to look for parental mosaicism using advanced PCR techniques.
  • Out of 20 families, 20% showed parental mosaicism, with specific variants identified in two maternal cases and one paternal case, providing crucial information for assessing recurrence risk and planning medical care for future pregnancies.

Article Abstract

Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33 to 25.9%. In this study, parents whose children had previously been diagnosed with developmental disorders with an apparent de novo variant were recruited. Peripheral blood, buccal and semen samples were collected from these parents if available for the detection of potential parental mosaicism using droplet digital PCR, complemented with the method of blocker displacement amplification. Among the 20 families being analyzed, we report four families with parental mosaicism (4/20, 20%). Two families have maternal gonosomal mosaicism (EYA1 and EBF3) and one family has paternal gonadal mosaicism (CHD7) with a pathogenic/ likely pathogenic variant. One family has a paternal gonosomal mosaicism with a variant of uncertain significance (FLNC) with high clinical relevance. The detectable variant allele frequency in our cohort ranged from 8.7-35.9%, limit of detection 0.08-0.16% based on our in-house EBF3 assay. Detecting parental mosaicism not only informs family with a more accurate recurrence risk, but also facilitates medical teams to create appropriate plans for pregnancy and delivery, offering the most suitable care.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10557286PMC
http://dx.doi.org/10.1186/s40246-023-00535-yDOI Listing

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