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Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders.
Kieran C. Murphy, Professor and Chairman, Department of Psychiatry at the Royal College of Surgeons in Dublin, Ireland,
Peter J. Scambler, Professor of Molecular Medicine, Institute of Neurology, London
Kieran C. Murphy, Education and Research Centre, Royal College of Surgeons of Ireland,Peter J. Scambler, Institute of Child Health, University College London
The term velo-cardio-facial syndrome (VCFS) was coined almost 30 years ago and at that time VCFS was thought to be a very rare congenital malformation. Molecular analysis subsequently revealed that VCFS is associated with deletions encompassing genes mapping to chromosome 22q11, and since that discovery VCFS has been studied intensively by clinicians, geneticists and developmental biologists. Part of this interest is sparked by the relative frequency of the deletion; at 1 in 4000 live births VCFS is the most common microdeletion syndrome known in man.
VCFS patients may present at many different clinics given the protean nature of the condition – over 100 different manifestations have been described in the literature. This book attempts to summarise the rapid progress that has recently been made in understanding and treating people with VCFS. We hope that publication of this book will be useful for several reasons: (1) professionals studying or treating one aspect of VCFS are often relatively unaware of the involvement of other systems and this book will assist them in obtaining a more holistic view of people with VCFS; (2) VCFS may been seen as a paradigm for other less common microdeletion disorders and experience with VCFS may help to direct research and treatment strategies across a range of other microdeletion disorders; (3) while this book emphasises the clinical issues relevant to VCFS, it also reflects the increasing recognition that an understanding of relatively rare disorders such as VCFS can tell us much about more common conditions, such as predisposition to psychiatric illness; (4) the study of the embryological basis for the structural malformations observed in VCFS is helping to uncover some basic mechanisms of developmental biology.
The occurrence of familial 22q11 deletion syndrome (22q11DS) raises the possibility of prenatal diagnosis for those families at risk, and parents of any new case should be offered deletion screening. Deletion of 22q11 is the most frequent interstitial chromosome deletion observed in man, begging the question as to whether there is any structural predisposition to chromosome rearrangements of this region. The single gene hypothesis predicted that a subset of those velo-cardio-facial syndrome/DiGeorge Syndrome (VCFS/DGS) patients with no apparent deletion of 22q11 would have a small deletion or point mutation inactivating the major gene haploinsufficient in the condition. The frustration at failure to find any loss of function mutations of DGCR genes in patients with no deletion prompted investigators to pursue animal models. Given the cognitive deficits and increased incidence of behavioral difficulty in 22q11DS attempts have been made to identify behavioral correlates in the mouse deletion model.