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New genes discovered that cause baraitser-winter syndrome, a brainmalformation by wgre ethbtn
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New genes discovered that cause baraitser-winter syndrome, a brainmalformation by WGRE ETHBTN
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| Article Posted: 09/25/2012 |
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New genes discovered that cause baraitser-winter syndrome, a brainmalformation |
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Scientists from Seattle Children's Research Institute and theUniversity of Washington, in collaboration with the GenomicDisorders Group Nijmegen in the Netherlands, have identified twonew genes that cause Baraitser-Winter syndrome, a rare brainmalformation that is characterized by droopy eyelids andintellectual disabilities. "This new discovery brings the total number of genes identifiedwith this type of brain defect to eight," said William Dobyns, MD,a geneticist at Seattle Children's Research Institute.Identification of the additional genes associated with the syndromemake it possible for researchers to learn more about braindevelopment. The study, "De novo mutations in the actin genes ACTBand ACTG1 cause Baraitser-Winter syndrome," was published online in Nature Genetics. The brain defect found in Baraitser-Winter syndrome is a smoothbrain malformation or "lissencephaly," as whole or parts of thesurface of the brain appear smooth in scans of patients with thedisorder.
Previous studies by Dr. Dobyns and other scientistsidentified six genes that cause the smooth brain malformation,accounting for approximately 80% of affected children. Physiciansand researchers worldwide have identified to date approximately 20individuals with Baraitser-Winter syndrome. While the condition is rare, Dr. Dobyns said the team's findingshave broad scientific implications.
"Actins, or the proteinsencoded by the ACTB and ACTG1 genes, are among the most importantproteins in the function of individual cells," he said. "Actins arecritical for cell division, cell movement, internal movement ofcellular components, cell-to-cell contact, signaling and cellshape," said Dr. Dobyns, who is also a University of Washingtonprofessor of pediatrics. "The defects we found occur in the onlytwo actin genes that are expressed in most cells," he said. Geneexpression is akin to a "menu" for conditions like embryodevelopment or healing from an injury.
The correct combination ofgenes must be expressed at the right time to allow properdevelopment. Abnormal expression of genes can lead to a defect ormalformation. "Birth defects associated with these two genes also seem to bequite severe," said Dr. Dobyns. "Children and people with thesegenes have short stature , an atypical facial appearance, birth defects of the eye, and thesmooth brain malformation along with moderate mental retardationand epilepsy.
Hearing loss occurs and can be progressive," he said. Dr. Dobyns is a renowned researcher whose life-long work has beento try to identify the causes of children's developmental braindisorders such as Baraitser-Winter syndrome. He discovered thefirst known chromosome abnormality associated with lissencephaly(Miller-Dieker syndrome) while still in training in child neurologyat Texas Children's Hospital in 1983. That research led, 10 yearslater, to the discovery by Dobyns and others of the firstlissencephaly gene known as LIS1.
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