 |
|
Genetic profile reveals susceptibility to cleft palate
September 16, 2008For the first time, researchers from the University of Pittsburgh School of Dental Medicine have identified a series of genetic mutations that appear to be linked to significant risk for cleft palate and other dental abnormalities. These are devastating conditions that cause tremendous social isolation, and also are associated with decreased lifespan, a higher risk of cancer and increased susceptibility to psychiatric disorders, even after surgical repair.
As reported in the September issue of Genetics in Medicine, Alexandre Vieira, DDS, Ph.D., assistant professor in the Department of Oral Biology, University of Pittsburgh School of Dental Medicine, and colleagues collected and evaluated genetic material from the saliva and blood of more than 500 individuals in family groups with two or more siblings affected with cleft lip or palate, and an additional 100 people from unrelated families whose samples were used for general-population comparison data. The researchers analyzed 1,489 variations in DNA sequences, known as single-nucleotide polymorphisms, in 150 genes.
"We found a group of more than a dozen gene mutations that appear to be significantly associated with cleft lip and palate, as well as other dental abnormalities - predominantly at the locations for ERBB2, CDH2 and IRF6," said Dr. Vieira, who is a pediatric dental specialist. "Here we report, for the first time, an extensive candidate gene analysis for cleft susceptibility, a crucial step that may allow for better estimates of recurrence risk in individual families."
Collecting the genetic data from members of extended family groups living among the 7,000 islands in the Philippines presented its own challenges in the form of typhoons and severe tropical storms, at least one major landslide and frequently thorny local political conditions that restricted areas to which researchers could safely travel. Field researchers were stranded for more than a week and pitched in to help emergency rescue personnel following a massive mudslide on Southern Leyte that caused widespread damage and loss of life in February 2006.
"In some cases, it would be two entire days of travel by boat, car and foot to reach just one family in a remote village," said Dr. Vieira. "It took us about three years to finish the project."
The gene ERBB2 has been associated with aggressive breast cancer, while IRF6 is linked to formation of the connective tissue, such as the palate. CDH2 is a gene associated with left-right asymmetry. Other genes of interest that were identified include MSX1, PVR, PVRL and TGFA.
Associated tooth abnormalities studied included families where people had extra teeth, or teeth that were tiny or missing. Missing teeth was the most frequently observed abnormality, the researchers noted.
Cleft lip and palate is a common birth defect, on average affecting about one in 700 live births worldwide. In general, Asian populations have a higher prevalence of cleft lip and palate at about one in 500 births. Among Caucasians, the rate is one in 1,100, and African populations have the lowest rate at one in 2,500 births.
"In the Philippines, affected people can be completely isolated socially, miserable, alcoholic and heavy smokers with a hard time speaking. Access to care is very difficult," said Dr. Vieira. "The hope is to be able to narrow down the genes that cause clefts and to screen for that risk - and, eventually, to possibly lead to gene therapy targets, although that may not happen in my lifetime."
University of Pittsburgh Schools of the Health Sciences
Collecting the genetic data from members of extended family groups living among the 7,000 islands in the Philippines presented its own challenges in the form of typhoons and severe tropical storms, at least one major landslide and frequently thorny local political conditions that restricted areas to which researchers could safely travel. Field researchers were stranded for more than a week and pitched in to help emergency rescue personnel following a massive mudslide on Southern Leyte that caused widespread damage and loss of life in February 2006.
"In some cases, it would be two entire days of travel by boat, car and foot to reach just one family in a remote village," said Dr. Vieira. "It took us about three years to finish the project."
The gene ERBB2 has been associated with aggressive breast cancer, while IRF6 is linked to formation of the connective tissue, such as the palate. CDH2 is a gene associated with left-right asymmetry. Other genes of interest that were identified include MSX1, PVR, PVRL and TGFA.
Associated tooth abnormalities studied included families where people had extra teeth, or teeth that were tiny or missing. Missing teeth was the most frequently observed abnormality, the researchers noted.
Cleft lip and palate is a common birth defect, on average affecting about one in 700 live births worldwide. In general, Asian populations have a higher prevalence of cleft lip and palate at about one in 500 births. Among Caucasians, the rate is one in 1,100, and African populations have the lowest rate at one in 2,500 births.
"In the Philippines, affected people can be completely isolated socially, miserable, alcoholic and heavy smokers with a hard time speaking. Access to care is very difficult," said Dr. Vieira. "The hope is to be able to narrow down the genes that cause clefts and to screen for that risk - and, eventually, to possibly lead to gene therapy targets, although that may not happen in my lifetime."
University of Pittsburgh Schools of the Health Sciences
Cleft Palate Current Events and Cleft Palate News RSSMoms' smoking linked to increased risk of birth defects
Babies whose mothers smoked during pregnancy were more than twice as likely to have a cleft palate or lip as those whose mothers didn't, according to research results released today.
Study finds genetic variant plays role in cleft lip
University of Iowa researchers and collaborators have found, in a previously identified gene, a variation that likely contributes to one in five cases of isolated cleft lip.
New insight into most common forebrain malformation
St. Jude Children's Research Hospital scientists have identified one of the molecular mechanisms underlying the genetic brain malformation called holoprosencephaly (HPE). The findings not only yield insights into the most common developmental malformation of the anterior brain and face in newborns, but also help in understanding the intricate process by which the brain forms in the developing fetus.
USC researchers identify alternate pathway that leads to palate development
Researchers at the University Of Southern California School Of Dentistry have uncovered another clue behind the causes of cleft palate and the process that leads to palate formation.
Lack of time on tummy shown to hinder achievement
The American Physical Therapy Association (APTA) is urging parents and caregivers to ensure that babies get enough "tummy time" throughout the day while they are awake and supervised, in light of a recent survey of therapists who say they've noticed an increase in motor delays in infants who spend too much time on their backs while awake.
Is tap water safe for expectant mothers?
Drinking water disinfected by chlorine while pregnant may increase the risk of having children with heart problems, cleft palate or major brain defects, according to a study published today in BioMed Central's open access journal Environmental Health.
Research shows timing improves cleft palate surgery
Research by Dr. Damir Matic, a scientist with Lawson Health Research Institute in London, Ontario is changing the way cleft palate surgeries are performed throughout North America and around the world. Matic has been conducting research to determine the optimal time to close the gum tissue of cleft palate patients. His research suggests that it is best to wait until the child is older.
Oregon researchers discover a mechanism leading to cleft palate
By creating a genetic mutation in zebrafish, University of Oregon scientists say they've discovered a previously unknown mechanism for cleft palate, a common birth defect in humans that has challenged medical professionals for centuries.
Cleft palate in fetal mice prevented by treating
Mice engineered to have cleft palates can be rescued in utero by injecting the mothers with a small molecule to correct the defect, say scientists at the Stanford University School of Medicine and Lucile Packard Children's Hospital.
Folic acid may prevent cleft lip and palate
A new study finds that women who take folic acid supplements early in their pregnancy can substantially reduce their baby's chances of being born with a facial cleft.
More Cleft Palate Current Events and Cleft Palate News Articles
 | Therapy Techniques for Cleft Palate Speech and Related Disorders by Karen Golding Kushner (Thomson Learning) Dept. of Special Education and Individualized Services Speech Pathology Program, Kean Univ., Union, NJ. A hands-on manual for clinicians that provides proven techniques for managing the speech and voice disorders for cleft palate. Covers intervention methods ranging from early intervention and preschool to adolescence.... |
 | Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance by Ann W. Kummer Cleft Palate and Craniofacial Anomalies: Effects on Speech and Resonance is the only book of its kind that covers both oral and facial anomalies and cleft palate. Designed as a how-to guide for the practicing clinician, this book emphasizes what students, clinicians new to this population, and any member of a cleft palate team need to know in the workplace. It includes information on common... |
 | The Clinician's Guide to Treating Cleft Palate Speech by Sally Peterson-Falzone, Judith Trost-Cardamone, Michael Karnell, Mary Hardin-Jones This pocket-size handbook provides brief summaries about the effects of clefts and non-cleft velopharyngeal inadequacy (VPI) on communication development in children. Its clinical focus covers the diagnosis and management of the resulting disorders with information presented in a quick-reference format, including many bulleted lists, tables, and helpful illustrations. While this book is a... |
 | First Place - This book has been designed to help children to understand and accept the effects of cleft palate, cleft lip or any speech impediment in ... most importantly, how best to overcome them. by Kate Gaynor This book has been designed to help children to understand and accept the effects of cleft palate, cleft lip or any speech impediment in their lives and most importantly, how best to overcome them. Children with cleft palate or any child with speech or language difficulties can feel very isolated and confused as to why they cannot communicate as their peers do. This book helps children realize... |
 | Cleft Lip and Palate: From Origin to Treatment Majoradvances in the diagnosis and treatment of oral clefts have been made in the past 50 years, and recent genetics and epidemiological studies have led to new theories about the causes of cleft lip and palate. Addressing issues that are relevant to clinicians, researchers and family members, this book is a comprehensive, well-illustrated, and up-to-date account of the many facets of this... |
 | Cleft Lip and Palate: Diagnosis and Management The second edition of Cleft Lip and Palate: Perspectives In Management is an unparalleled review of treatment concepts in all areas of cleft involvement presented by an international team of experienced clinicians. This text can never be duplicated since it largely consists of longitudinal facial and palatal growth studies of dental casts, photographs, panorexes and cephalographs from birth to... |
 | Your Cleft-Affected Child: The Complete Book of Information, Resources, and Hope by Carrie T. Gruman-Trinkner Clefting is one of the most common birth defects and one of the most reparable. Yet parents of clefted newborns often initially respond with fear, shock, and despair. This first guide written specifically for parents explains what a cleft is, why it occurs, and what can be done about it. Topics include surgical procedures, financial assistance, emotional impact, and forming support... |
 | Management of Cleft Lip and Palate in the Developing World This book explores the complex issues surrounding the management of cleft lip and palate in the Developing World, and aims to raise the profile of a condition commonly considered to be of only cosmetic importance in countries where infant and child mortality rates are high. It provides information and guidelines to three groups: those in the Developing World setting up programmes of cleft lip and... |
 | The Cleft Palate Story by Samuel Berkowitz When a child is born with a cleft lip and/or palate, parents are often left with unanswered questions and a lack of information as to what to do and when to do it. The Cleft Palate Story is a unique and comprehensive book that provides parents with the answers to those questions and helps them to understand and successfully manage the problems associated with their child’s cleft. Dr. Samuel... |
 | A Parent's Guide to Cleft Lip and Palate (University of Minnesota Guides to Birth and Childhood Disorders) by Karlind T. Moller, Clark D. Starr, Sylvia A. Johnson |
| © 2008 BrightSurf.com |