Germ line mosaicism - PubMed (original) (raw)
Review
Germ line mosaicism
J Zlotogora. Hum Genet. 1998 Apr.
Abstract
Mosaicism in germ cells has been recognized, over the past few years, as an important and relatively frequent mechanism at the origin of genetic disorders. There are two possibilities for the existence of such a mosaicism: one is that the mutation occurs in a germ cell that continues to divide. The other possibility is that the mutation occurs very early in a somatic cell before the separation to germinal cells and is therefore present both in somatic and germinal cells. Depending on various factors, such as the gene involved and/or the degree of mosaicism, the carrier of a somatic and germline mosaicism may be asymptomatic or may present with various symptoms of the disease. There are still relatively few reports in the literature in which the origin of germ-line mosaicism has been analyzed; nevertheless, they allow for a better insight into the mechanisms involved. In some diseases, such as osteogenesis imperfecta, new mutations are often present as asymptomatic somatic and germline mosaicism in one of the parents of the propositus. In other disorders, such as neurofibromatosis, somatic mosaicism is very rare in the parents of the propositus, perhaps since such mosaicism causes clinical symptoms. These differences are particularly important for genetic counseling in order to evaluate the risk for another affected child after the birth of the propositus.
Similar articles
- Somatic gene mutation and human disease other than cancer.
Erickson RP. Erickson RP. Mutat Res. 2003 Mar;543(2):125-36. doi: 10.1016/s1383-5742(03)00010-3. Mutat Res. 2003. PMID: 12644182 Review. - Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wiśniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. Campbell IM, et al. Am J Hum Genet. 2014 Aug 7;95(2):173-82. doi: 10.1016/j.ajhg.2014.07.003. Epub 2014 Jul 31. Am J Hum Genet. 2014. PMID: 25087610 Free PMC article. - Somatic gene mutation and human disease other than cancer: an update.
Erickson RP. Erickson RP. Mutat Res. 2010 Oct;705(2):96-106. doi: 10.1016/j.mrrev.2010.04.002. Epub 2010 Apr 24. Mutat Res. 2010. PMID: 20399892 Review. - Germinal mosaicism and risk calculation in X-linked diseases.
Jeanpierre M. Jeanpierre M. Am J Hum Genet. 1992 May;50(5):960-7. Am J Hum Genet. 1992. PMID: 1570845 Free PMC article. - Mechanisms and consequences of somatic mosaicism in humans.
Youssoufian H, Pyeritz RE. Youssoufian H, et al. Nat Rev Genet. 2002 Oct;3(10):748-58. doi: 10.1038/nrg906. Nat Rev Genet. 2002. PMID: 12360233 Review.
Cited by
- Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review.
Fan X, Yang T, Lu X, Chen Y, Chen X. Fan X, et al. Sci Prog. 2024 Apr-Jun;107(2):368504241242278. doi: 10.1177/00368504241242278. Sci Prog. 2024. PMID: 38629201 Free PMC article. Review. - De Novo Mutation Rates in Sticklebacks.
Zhang C, Reid K, Sands AF, Fraimout A, Schierup MH, Merilä J. Zhang C, et al. Mol Biol Evol. 2023 Sep 1;40(9):msad192. doi: 10.1093/molbev/msad192. Mol Biol Evol. 2023. PMID: 37648662 Free PMC article. - Preimplantation genetic testing for recurrent autosomal dominant osteogenesis imperfecta associated with paternal gonosomal mosaicism.
Bai H, Li X, Liu X, Shi W, He B, Wei R, Shi J. Bai H, et al. Front Genet. 2022 Oct 5;13:1011833. doi: 10.3389/fgene.2022.1011833. eCollection 2022. Front Genet. 2022. PMID: 36276971 Free PMC article. - De novo mutations, genetic mosaicism and human disease.
Mohiuddin M, Kooy RF, Pearson CE. Mohiuddin M, et al. Front Genet. 2022 Sep 26;13:983668. doi: 10.3389/fgene.2022.983668. eCollection 2022. Front Genet. 2022. PMID: 36226191 Free PMC article. Review. - Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.
Pinti E, Nemeth K, Staub K, Lengyel A, Fekete G, Haltrich I. Pinti E, et al. BMC Pediatr. 2021 Jul 29;21(1):331. doi: 10.1186/s12887-021-02791-0. BMC Pediatr. 2021. PMID: 34325699 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Research Materials
Miscellaneous