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Pregnancy Timeline by SemestersFetal liver is producing blood cellsHead may position into pelvisBrain convolutions beginFull TermWhite fat begins to be madeWhite fat begins to be madeHead may position into pelvisImmune system beginningImmune system beginningPeriod of rapid brain growthBrain convolutions beginLungs begin to produce surfactantSensory brain waves begin to activateSensory brain waves begin to activateInner Ear Bones HardenBone marrow starts making blood cellsBone marrow starts making blood cellsBrown fat surrounds lymphatic systemFetal sexual organs visibleFinger and toe prints appearFinger and toe prints appearHeartbeat can be detectedHeartbeat can be detectedBasic Brain Structure in PlaceThe Appearance of SomitesFirst Detectable Brain WavesA Four Chambered HeartBeginning Cerebral HemispheresFemale Reproductive SystemEnd of Embryonic PeriodEnd of Embryonic PeriodFirst Thin Layer of Skin AppearsThird TrimesterSecond TrimesterFirst TrimesterFertilizationDevelopmental Timeline
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Home | Pregnancy Timeline | News Alerts |News Archive June 30, 2014

One to 3 percent of the general population has some mild curvature of the spine.
In about one in 10,000 children, scoliosis will produce curvature so pronounced
that it requires corrective surgery.

 






WHO Child Growth Charts

 

 

 

Scoliosis and Marfans linked to rare gene mutations

Children with rare mutations in two genes are about four times more likely to develop severe scoliosis, curvature of the spine, than children with normal versions of those genes.

The research at Washington University School of Medicine in St. Louis has identified genetic risk factors that predispose children to develop s-shaped curves in their spines that require surgery.

“We’ve had a difficult time finding ways to predict who will develop severe scoliosis, and these newly identified mutations have the potential to be very helpful,” said senior author Christina A. Gurnett, MD, PhD.

Her findings appear in the journal Human Molecular Genetics.

Drugs currently in clinical trials block a major growth pathway that these mutated genes, fibrillin-1 and fibrillin-2, control. If the same pathway is involved in scoliosis, doctors might be able to use these drugs to prevent scoliosis in some children with these mutations.

“These children often don’t have any curvature of the spine early in adolescence, but then they go through a growth spurt, and that’s when the curve appears,” said Gurnett, associate professor of neurology. “Others have tried to predict severe disease using gender, age of onset and type of spine curve but haven’t been very successful.”


In 91 patients with acute scoliosis, scientists sequenced the patients’ DNA and found the most consistently mutated gene in the group was fibrillin-1, a protein important in making connective tissues. A related gene, fibrillin-2, was also often mutated.


Additional sequencing of fibrillin-1 and fibrillin-2 genes in 852 patients with scoliosis, as compared to 669 subjects with healthy spines, revealed that patients with specific mutations in both had four times the risk of severe scoliosis than people without the genetic errors. The scientists also developed a new cost-effective method reducing the cost of sequencing each patient’s genes from $3,000-4,000 to about $30.

To date, scientists have identified more than 600 mutations in fibrillin-1. Among the most serious are the mutations that produce Marfan syndrome, a condition that can cause the long bones of the body to overgrow and can weaken the body’s connective tissue.


“Some variants of this important gene are associated with unusual tallness. There appears to be a spectrum of effects caused by changes in the gene, from simple alterations in height to severe scoliosis to more life-threatening conditions such as Marfan syndrome.”

Christina A. Gurnett, MD, PhD, research senior author, Washington University School of Medicine, St. Louis


Clinical trials are underway in patients with Marfan syndrome to see whether drugs that block TGF-beta, a growth pathway controlled by fibrillin-1, can help slow down or stop the disorder. Gurnett and her colleagues are watching to see if the drugs similarly affect curved growth of the spine. If they do, researchers may investigate using them to prevent scoliosis.

Meanwhile, the researchers continue to look for additional genetic risk factors. “We’re very confident that genetic studies are going to open up new avenues for diagnosis and treatment of scoliosis,” says coauthor Matthew Dobbs, MD, professor of orthopaedic surgery, who treats patients at St. Louis Children’s Hospital and Shriners Hospital.

“We want to create a genetic testing panel that we can use to more accurately predict who will need treatment,” Gurnett adds. “If we can develop effective treatments and apply them early, we might one day be able to prevent the need for surgeries.”

Abstract
Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS. Based on these results, FBN1 and a related gene, fibrillin-2 (FBN2), were sequenced in a total of 852 AIS cases and 669 controls. In individuals of European ancestry, rare variants in FBN1 and FBN2 were enriched in severely affected AIS cases (7.6%) compared with in-house controls (2.4%) (OR = 3.5, P = 5.46 × 10−4) and Exome Sequencing Project controls (2.3%) (OR = 3.5, P = 1.48 × 10−6). Scoliosis severity in AIS cases was associated with FBN1 and FBN2 rare variants (P = 0.0012) and replicated in an independent Han Chinese cohort (P = 0.0376), suggesting that rare variants may be useful as predictors of curve progression. Clinical evaluations revealed that the majority of AIS cases with rare FBN1 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tall stature (P = 0.0035) and upregulation of the transforming growth factor beta pathway. Overall, these results expand our definition of fibrillin-related disorders to include AIS and open up new strategies for diagnosing and treating severe AIS.

© The Author 2014. Published by Oxford University Press. All rights reserved.

This work was supported by Shriners Hospital for Children (85200-STL), the Children’s Discovery Institute of Washington University and St. Louis Children’s Hospital, the National Institutes of Health (NIH) (K12 HD001459-08, K08NS075094, R01AG044546) and the Alzheimer’s Association (NIRG-11-200110).

Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Cheng JC-Y, Dobbs MB, Gurnett CA. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Human Molecular Genetics, May 29, 2014.

Washington University School of Medicine’s 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children’s hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation, currently ranked sixth in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Children’s hospitals, the School of Medicine is linked to BJC HealthCare.

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