Gene causing stunted growth in children responsible for other growth disorders

Scientists at the University of California, Los Angeles in the USA have identified a genetic mutation responsible for rare disorders responsible for both stunted growth and fast growth in children. The same genetic mutation is the cause of two growth development disorders, IMAGe syndrome where growth is restricted in the womb and leads to slow growth and adrenal insufficiences; and Beckwith-Wiedemann syndrome, a condition leading to overgrowth of children from birth onwards and is usually associated with cancer.

The researchers hope that the discovery of this gene could be used to prevent rapid and uncontrolled cell division in tumours. They also propose to use genetic screening to “…diagnose children early enough for them to benefit from medical intervention.”

Children suffering from both IMAGe syndrome and Beckwith-Wiedemann syndrome have a short life expectancy for opposing reasons; as such, the researchers are surprised to find that the same gene is responsible for both conditions. The finding has been the culmination of twenty years of research and provides hope for families with this genetic mutation in their inheritance.

Dr Rakesh Amin, Consultant Paediatric Endocrinologist has written advice for parents who think their child may be experiencing stunted growth in the form of familial short stature or Growth Hormone Deficiency, or for children with a tall stature who may have a chromosomal abnormality such as Marfan’s or Soto’s syndrome.

Abnormal, uncontrolled cell division resulting in a malignant tumour that may invade surrounding tissues or spread to distant parts of the body. Full medical glossary
The basic unit of all living organisms. Full medical glossary
The basic unit of genetic material carried on chromosomes. Full medical glossary
Relating to the genes, the basic units of genetic material. Full medical glossary
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A change in the genetic material (DNA) of a cell, or the change this this causes in a characteristic of the individual, which is not caused by normal genetic processes. Full medical glossary
Relating to the kidney. Full medical glossary
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A way to identify people who may have a certain condition, among a group of people who may or may not seem to Full medical glossary
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The uterus. Full medical glossary