In the U.S., thousands of babies are born each year with a developmental disability that can contribute to learning problems, heart defects, seizures, and more. The Deciphering Developmental Disorders (DDD) study looked at the genetic makeup that could point to diagnoses for children with disorders that are not yet known.
While up to half of these developmental disability cases are thought to be caused by new gene mutations only present in one parent’s egg or sperm, it was unknown how many could be caused by recessive genes (where a patient needs to inherit a genetic variant in the same gene from both parents).
The study, published in the journal Science, revealed that only a small fraction of rare and undiagnosed developmental disorders in the British Isles were caused by recessive genes. The study also revealed two new recessive genetic conditions, providing two families with diagnoses.
The study was conducted by researchers from the Wellcome Sanger Institute and involved sequencing the genes of approximately 5,500 patients with rare developmental disorders. The researchers developed a new method to analyze the data and identify recessive causes. New mutations and recessive genes accounted for about 55% of patients in the study, combined. This means that the causes of nearly half of those cases are still unknown.
Understanding the cause of a developmental disorder helps parents and doctors. For parents, it’s helpful to know what caused a developmental problem, and to be able to seek out other affected families for support and advice. For doctors, it leads to a better understanding of risk in pregnancy and even personalized risk predictions for families.
Uncovering the Causes of Developmental Disorders
Posted On: 12-07-2018
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