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Pregnancy Timeline by SemestersLungs begin to produce surfactantImmune system beginningHead may position into pelvisFull TermPeriod of rapid brain growthWhite fat begins to be madeHead may position into pelvisWhite fat begins to be madeImmune system beginningBrain convolutions beginBrain convolutions beginFetal liver is producing blood cellsSensory 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 Feb 26, 2015

Emeritus Professor Alastair MacLennan is shown with Matthew Reinertsen, who has cerebral palsy. Researchers have discovered that many cases of cerebral palsy may have genetic causes.
Image Credit: Robinson Research Institute, University of Adelaide

 






 

 

Cerebral palsy – it can be in your genes

An international research group led by a team at the University of Adelaide has made what they believe could be the biggest discovery into cerebral palsy in 20 years.

It has long been the belief that cerebral palsy occurs when a child experiences a lack of oxygen during pregnancy or at birth. However, at least 14% of cerebral palsy cases are likely caused by a genetic mutation according to the Australian Collaborative Cerebral Palsy Research Group, based at the University of Adelaide's Robinson Research Institute. Their research is published in the Nature journal, Molecular Psychiatry.

Emeritus Professor Alastair MacLennan, head of the Cerebral Palsy Research Group, says prior to this study it was believed that as little as 1% of cerebral palsy cases had a genetic cause.


"Cerebral palsy is a major neurodevelopmental disorder disrupting movement control. It occurs in 1 in 400 children. While we have long suspected that genes may play a role in the development of cerebral palsy, it wasn't until our research group mapped the DNA from cerebral palsy families that we can now show genetic mutations are the likely cause of the condition in at least 14% of cases."

Alastair MacLennan, AO, MB ChB, MD, FRCOG, FRANZCOG was Professor and third Head of the Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health at The University of Adelaide, and now professor emeritus.


Professor Jozef Gecz, University of Adelaide genetic scientist, says because cerebral palsy is at least partly genetic in origin there will be significant change in the approach to diagnosis, management and treatment of the condition.


"Our findings of genetic diversity in cerebral palsy are similar to the genetic architecture of other neurological disabilities, such as intellectual disabilities, epilepsies, autisms and schizophrenias. The research will lead to early diagnosis of some cerebral palsies and aid in finding preventative genetic techniques in the future. The work should also reduce inappropriate litigation against obstetric medics — who at times are blamed for causing the condition — which has led to defensive obstetrics and unnecessarily high caesarean delivery rates."

Jozef Gecz PhD, Professor of Human Genetics: The University of Adelaide, Department of Paediatrics, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, Australia.


University of Adelaide PhD student and lead author, Gai McMichael, who was supervised by Professors MacLennan and Gecz, believes this dramatic research finding will help change how people think about cerebral palsy. "These results will make many rethink assumptions about the causes of cerebral palsy, which can be devastating for all concerned," says Ms McMichael.

The University of Adelaide-based research group has gathered a unique DNA and clinical data cerebral palsy biobank, which is attracting international attention and further research collaboration. All research was conducted with the help of collaborators around Australia and in Houston, Texas, and with funding from the National Health and Medical Research Council and the Cerebral Palsy and Tenix Foundations, and is the result of 20 years of research.

Abstract
Cerebral palsy (CP) is a common, clinically heterogeneous group of disorders affecting movement and posture. Its prevalence has changed little in 50 years and the causes remain largely unknown. The genetic contribution to CP causation has been predicted to be ~2%. We performed whole-exome sequencing of 183 cases with CP including both parents (98 cases) or one parent (67 cases) and 18 singleton cases (no parental DNA). We identified and validated 61 de novo protein-altering variants in 43 out of 98 (44%) case-parent trios. Initial prioritization of variants for causality was by mutation type, whether they were known or predicted to be deleterious and whether they occurred in known disease genes whose clinical spectrum overlaps CP. Further, prioritization used two multidimensional frameworks—the Residual Variation Intolerance Score and the Combined Annotation-dependent Depletion score. Ten de novo mutations in three previously identified disease genes (TUBA1A (n=2), SCN8A (n=1) and KDM5C (n=1)) and in six novel candidate CP genes (AGAP1, JHDM1D, MAST1, NAA35, RFX2 and WIPI2) were predicted to be potentially pathogenic for CP. In addition, we identified four predicted pathogenic, hemizygous variants on chromosome X in two known disease genes, L1CAM and PAK3, and in two novel candidate CP genes, CD99L2 and TENM1. In total, 14% of CP cases, by strict criteria, had a potentially disease-causing gene variant. Half were in novel genes. The genetic heterogeneity highlights the complexity of the genetic contribution to CP. Function and pathway studies are required to establish the causative role of these putative pathogenic CP genes.

Authors
G McMichael, M N Bainbridge, E Haan, M Corbett, A Gardner, S Thompson, B W M van Bon, C L van Eyk, J Broadbent, C Reynolds, M E O'Callaghan, L S Nguyen, D L Adelson, R Russo, S Jhangiani, H Doddapaneni, D M Muzny, R A Gibbs, J Gecz and A H MacLennan

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