Research Topic

Novel Insights into the Genetics of Growth Disorders

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About this Research Topic

Human growth is a complex trait determined by genetic, hormonal, nutritional, and environmental factors, from fetal life to puberty. A disturbance of longitudinal growth is the most common cause for pediatric consultation and represents a challenge to health care professionals at all levels. Although the ...

Human growth is a complex trait determined by genetic, hormonal, nutritional, and environmental factors, from fetal life to puberty. A disturbance of longitudinal growth is the most common cause for pediatric consultation and represents a challenge to health care professionals at all levels. Although the Growth Hormone- Insuline like Growth Factor (GH-IGF) axis has a central role with specific actions on growth, numerous genes have been described to be involved in many different pathways contributing to the control of stature. Multiple disorders characterized by growth failure of prenatal and/or postnatal onset due to single gene defects have been described. The advent of new technologies for genomic analysis greatly facilitated the discovery of novel genes and novel mechanisms involved in Growth Disorders allowing early diagnosis and facilitating the clinical management of the patients, including genetic counseling.

In this Research Topic we would like to provide an overview of the most recent advances in the discovery of novel mechanisms leading to growth impairment associated with endocrine defects. These will include genomic disorders, epigenetic causes of diseases and monogenic defects leading to the most severe cases of short stature that might be associated with endocrine dysfunctions. Sometimes variants of moderate effect explain cases of short stature that are less extreme than those observed in single gene disorders with distinct classical syndromic phenotype. In some instances, the identification of epigenetic alterations allows for a better definition and classification of different conditions characterized by dwarfism.
Genome Wide Association Studies on human height also contributed to identifying novel height determinants that might be altered in severe forms of growth defects. The introduction of Next Generation Sequencing and Microarray analysis in the diagnostic workflow of Growth Disorders currently allows for the detection of mutations and genomic alterations that remained without a precise diagnosis so far. This allowed for a decrease in the cost and response time for clinical and molecular diagnostics and provided an important contribution to the improvement of therapeutic choices.

We are particularly interested in Original Research articles and Reviews covering the following subjects:

• Growth Disorders caused by genetic defects in pituitary hormones
• Monogenic causes of short stature
• Genomic rearrangements in short stature
• Imprinting disorders causing growth defects
• GWAS in human height and growth disorders


Keywords: Growth disorders, short stature, gene mutations, Pituitary hormone deficiency, imprinting disorders


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