Somatic gene mutation and human disease other than cancer: An update

Erickson, Robert P.

doi:10.1016/j.mrrev.2010.04.002

Cited by 181 publications

(155 citation statements)

References 173 publications

Supporting

Mentioning

150

Contrasting

Unclassified

Order By: Relevance

“…In addition to germline mutations, somatic or post-zygotic mutations also occur, causing genetic diseases. In the context of neo-natal medicine, this would be most important for disorders related to mosaicism such as in McCune -Albright syndrome, incontinentia pigmenti, and Sturge -Weber syndrome (van den Akker et al 2009;Erickson 2010;Shirley et al 2013). Mosaicism is probably more common than previously thought, with parental germline mosaicism in singleton children with genetic diseases estimated to be at least 4% (Huisman et al 2013;Campbell et al 2014).…”

Section: Types Of Monogenic Diseasesmentioning

confidence: 99%

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Smith

Willig

Kingsmore

2015

Cold Spring Harb Perspect Med

View full text Add to dashboard Cite

Section: Types Of Monogenic Diseasesmentioning

confidence: 99%

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Smith

Willig

Kingsmore

2015

Cold Spring Harb Perspect Med

View full text Add to dashboard Cite

“…3 However, to our knowledge this hypothesis was rarely explored in an unbiased manner for a heterogeneous group of disorders. 4 In this study, we used whole-exome sequencing (WES) approach to assess the contribution of parental mosaic germline mutations in familial forms of malformations of cortical development (MCD). …”

Section: How Can We Explain These 'Missing Genetic Causes'?mentioning

confidence: 99%

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

et al. 2015

View full text Add to dashboard Cite

To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD.

show abstract

“…Consequently, frequently dividing cell types, i.e., epithelial cells, hematopoietic cells, and male germ cells are vulnerable to somatic mutations that may lead to tumor development or other diseases and disorders. Therefore, most studies regarding somatic mutations have been attempts to discover mechanisms leading to cancer and disease (Youssoufian and Pyeritz 2002;Erickson 2010;Hanahan and Weinberg 2011).…”

mentioning

confidence: 99%

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

et al. 2014

View full text Add to dashboard Cite

The somatic mutation burden in healthy white blood cells (WBCs) is not well known. Based on deep whole-genome sequencing, we estimate that approximately 450 somatic mutations accumulated in the nonrepetitive genome within the healthy blood compartment of a 115-yr-old woman. The detected mutations appear to have been harmless passenger mutations: They were enriched in noncoding, AT-rich regions that are not evolutionarily conserved, and they were depleted for genomic elements where mutations might have favorable or adverse effects on cellular fitness, such as regions with actively transcribed genes. The distribution of variant allele frequencies of these mutations suggests that the majority of the peripheral white blood cells were offspring of two related hematopoietic stem cell (HSC) clones. Moreover, telomere lengths of the WBCs were significantly shorter than telomere lengths from other tissues. Together, this suggests that the finite lifespan of HSCs, rather than somatic mutation effects, may lead to hematopoietic clonal evolution at extreme ages.

show abstract

Somatic gene mutation and human disease other than cancer: An update

Cited by 181 publications

References 173 publications

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

Contact Info

Product

Resources

About