PURPOSE OF REVIEW: The understanding of velo-cardio-facial syndrome has grown markedly since the initial descriptions of this common genetic disorder nearly 30 years ago. Our knowledge of the syndrome has advanced in part from opportunities to monitor many patients into adulthood because of advances in the fields of cardiothoracic surgery and immunology. Longitudinal study has brought to light psychiatric and behavioral features of the syndrome that are often not apparent until late adolescence or the early adult years. Certain endocrine and immunologic features of the syndrome thought to be resolved in childhood are now witnessed in older patients. Variable expression and lack of disease awareness are two major factors that contribute to the delays in diagnosis in many cases. To address this, there has been a call to delineate screening parameters for patients at risk of carrying the deletion. RECENT FINDINGS: Several areas are highlighted in this review, reflecting the focus of scholarly work on velo-cardio-facial syndrome in the past year. Molecular genetics has shown smaller deletions in many families with the syndrome. The gene TBX1 has been found to be important to the phenotype. Surgical outcomes data reveal the greater challenges involved in correcting velopharyngeal insufficiency. SUMMARY: Defining the genetic basis of velo-cardio-facial syndrome will allow clinicians and basic scientists to make further inroads into understanding the variable expressivity of this syndrome. It is also important to be aware of the continued diagnostic challenges encountered by clinicians in attempts to improve the detection of patients with this syndrome.
PURPOSE OF REVIEW: The understanding of velo-cardio-facial syndrome has grown markedly since the initial descriptions of this common genetic disorder nearly 30 years ago. Our knowledge of the syndrome has advanced in part from opportunities to monitor many patients into adulthood because of advances in the fields of cardiothoracic surgery and immunology. Longitudinal study has brought to light psychiatric and behavioral features of the syndrome that are often not apparent until late adolescence or the early adult years. Certain endocrine and immunologic features of the syndrome thought to be resolved in childhood are now witnessed in older patients. Variable expression and lack of disease awareness are two major factors that contribute to the delays in diagnosis in many cases. To address this, there has been a call to delineate screening parameters for patients at risk of carrying the deletion. RECENT FINDINGS: Several areas are highlighted in this review, reflecting the focus of scholarly work on velo-cardio-facial syndrome in the past year. Molecular genetics has shown smaller deletions in many families with the syndrome. The gene TBX1 has been found to be important to the phenotype. Surgical outcomes data reveal the greater challenges involved in correcting velopharyngeal insufficiency. SUMMARY: Defining the genetic basis of velo-cardio-facial syndrome will allow clinicians and basic scientists to make further inroads into understanding the variable expressivity of this syndrome. It is also important to be aware of the continued diagnostic challenges encountered by clinicians in attempts to improve the detection of patients with this syndrome.
Authors: Xiaohui Tan; Sarah L Anzick; Sikandar G Khan; Takahiro Ueda; Gary Stone; John J Digiovanna; Deborah Tamura; Daniel Wattendorf; David Busch; Carmen C Brewer; Christopher Zalewski; John A Butman; Andrew J Griffith; Paul S Meltzer; Kenneth H Kraemer Journal: Hum Mutat Date: 2013-06-03 Impact factor: 4.878