Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

doi:10.1016/j.ajhg.2014.07.003

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

American journal of human genetics - 7 Aug 2014

Campbell Ian M, Yuan Bo, Robberecht Caroline, Pfundt Rolph, Szafranski Przemyslaw, McEntagart Meriel E, Nagamani Sandesh C S, Erez Ayelet, Bartnik Magdalena, Wiśniowiecka-Kowalnik Barbara, Plunkett Katie S, Pursley Amber N, Kang Sung-Hae L, Bi Weimin, Lalani Seema R, Bacino Carlos A, Vast Mala, Marks Karen, Patton Michael, Olofsson Peter, Patel Ankita, Veltman Joris A, Cheung Sau Wai, Shaw Chad A, Vissers Lisenka E L M, Vermeesch Joris R, Lupski James R, Stankiewicz Paweł

Abstract excerpt

New human mutations are thought to originate in germ cells, thus making a recurrence of the same mutation in a sibling exceedingly rare. However, increasing sensitivity of genomic technologies has anecdotally revealed mosaicism for mutations in somatic tissues of apparently healthy parents. Such somatically mosaic parents might also have germline mosaicism that can potentially cause unexpected intergenerational...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gametogenesis

Share to Genetic Diseases, Inborn

Share to Germ Cells

Share to Mosaicism

Share to Recurrence

Share to Sex Characteristics

Share to Smith-Magenis Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 25087610
DOI: 10.1016/j.ajhg.2014.07.003
PMCID: PMC4129404

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.PMID 25087610Read ↗

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.Semantic proximity Read ↗

Somatic mosaicism: implications for disease and transmission genetics.Semantic proximity Read ↗

Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.Semantic proximity Read ↗

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic <i>de novo</i> mutationSemantic proximity Read ↗

Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.Semantic proximity Read ↗

Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counsellingSemantic proximity Read ↗

Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.Semantic proximity Read ↗

Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.Semantic proximity Read ↗

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.Semantic proximity Read ↗

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation.Semantic proximity Read ↗

Landscape of parental postzygotic mutations in >11,000 rare disease triosSemantic proximity Read ↗

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.