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

New findings on autism-related disorder

May 24, 2018
In a study published today in Nature, Marc Bühler and his group at the Friedrich Miescher Institute for Biomedical Research (FMI) have taken a major step forward in elucidating the mechanisms underlying a disorder known ...

Genome study presents new way to track historical demographics of US populations

May 24, 2018
Sharon Browning of the University of Washington and colleagues developed a method to estimate historical effective population size, which is the number of individuals who pass on their genes to the next generation, to reveal ...

Researchers discover cell structure that plays a role in epigenetic inheritance

May 22, 2018
We know a lot about how genes get passed from parent to child, but scientists are still unraveling how so-called epigenetic information—instructions about which genes to turn on and off—is conveyed from generation to ...

Fruit flies: 'Living test tubes' to rapidly screen potential disease-causing human gene

May 22, 2018
It all began with one young patient; a 7-year old boy who was born without a thymus, an important organ of the immune system, and without functional immune cells. The boy also presented with cardiac and skeletal defects, ...

Advance genetics study identifies virulent strain of tuberculosis

May 22, 2018
LSTM's Dr. Maxine Caws is co-lead investigator on an advanced genetics study published in Nature Genetics, which has shown that a virulent strain of tuberculosis (TB) has adapted to transmit among young adults in Ho Chi Minh ...

Cell types underlying schizophrenia identified

May 22, 2018
Scientists at Karolinska Institutet in Sweden and University of North Carolina have identified the cell types underlying schizophrenia in a new study published in Nature Genetics. The findings offer a roadmap for the development ...

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.