IGF2 variant affects prenatal and postnatal growth

July 9, 2015

<i>IGF2</i> variant affects prenatal and postnatal growth
(HealthDay)—An IGF2 variant (c.191C—>A, p.Ser64Ter) affects postnatal as well as prenatal growth among those who have inherited the variant through paternal transmission, according to a report published online July 8 in the New England Journal of Medicine.

Matthias Begemann, Ph.D., from the Rhine-Westphalia Institute of Technology in Aachen, Germany, and colleagues describe an IGF2 variant with evidence of pathogenicity in a multigenerational family. Noting previous research that implicates IGF1 and IGF1R in intrauterine and postnatal growth restriction, the team sought to determine effects of mutations of IGF2, encoding insulin-like growth factor (IGF) II.

Four family members were found to have severe growth restriction. The researchers found that only family members who had inherited the variant through paternal transmission were affected by the phenotype, consistent with maternal imprinting status of IGF2. Affected family members had severe growth restriction, suggesting that IGF-II affects postnatal growth, as well as . Affected also had dysmorphic features, which was consistent with a role of deficient IGF-II levels in the cause of Silver-Russell syndrome.

"In conclusion, the identification of an IGF2 mutation in patients with growth restriction indicates that IGF-II not only is a mediator of intrauterine development but also contributes to postnatal growth and has pleiotropic effects," the authors write. "Our findings also suggest that treatment with recombinant human growth hormone could be considered."

Explore further: New genetic link found between normal fetal growth and cancer

More information: Abstract
Full Text

Related Stories

New genetic link found between normal fetal growth and cancer

April 9, 2013
Two researchers at the National Institutes of Health discovered a new genetic link between the rapid growth of healthy fetuses and the uncontrolled cell division in cancer. The findings shed light on normal development and ...

Two gene mutations drive adrenal cancer

September 10, 2012
Two different genetic mutations cooperate to induce adrenal cancer, according to a new study from researchers at the University of Michigan Comprehensive Cancer Center and University of Sao Paulo in Brazil.

Genomic imprinting maintains a reserve pool of blood-forming stem cells in mouse bone marrow

July 17, 2013
Hematopoietic stem cells—bone marrow-derived adult stem cells that give rise to the wide variety of specialized blood cells—come in two flavors: the reserve force sits quietly waiting to be called upon while the active ...

Recommended for you

Scientists identify critical cancer immunity genes using new genetic barcoding technology

October 20, 2018
Scientists at Mount Sinai have developed a novel technology for simultaneously analyzing the functions of hundreds of genes with resolution reaching the single cell level. The technology relies on a barcoding approach using ...

A single missing gene leads to miscarriage

October 19, 2018
A single gene from the mother plays such a crucial role in the development of the placenta that its dysfunction leads to miscarriages. Researchers from the Medical Faculty of Ruhr-Universität Bochum (RUB) have observed this ...

Making gene therapy delivery safer and more efficient

October 18, 2018
Viral vectors used to deliver gene therapies undergo spontaneous changes during manufacturing which affects their structure and function, found researchers from the Perelman School of Medicine at the University of Pennsylvania ...

Student develops microfluidics device to help scientists identify early genetic markers of cancer

October 16, 2018
As anyone who has played "Where's Waldo" knows, searching for a single item in a landscape filled with a mélange of characters and objects can be a challenge. Chrissy O'Keefe, a Ph.D. student in the Department of Biomedical ...

Researchers use brain cells in a dish to study genetic origins of schizophrenia

October 16, 2018
A study in Biological Psychiatry has established a new analytical method for investigating the complex genetic origins of mental illnesses using brain cells that are grown in a dish from human embryonic stem cells. Researchers ...

Why heart contractions are weaker in those with hypertrophic cardiomyopathy

October 16, 2018
When a young athlete suddenly dies of a heart attack, chances are high that they suffer from familial hypertrophic cardiomyopathy (HCM). Itis the most common genetic heart disease in the US and affects an estimated 1 in 500 ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.