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The revolution in molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Recent investigations have shown that a growing number of congenital heart malformations is due to single gene defects. The combined contribution of clinical and molecular studies is providing the chromosomal map of the genes related to these isolated cardiac defects, and to syndromes characteristically associated with specific cardiac malformations. These advances are relevant to clinical practice, since the accumulated knowledge can improve the quality of management of affected patients.
The neurotrophin nerve growth factor (NGF) is a major regulator of peripheral and central nervous system development. Serum NGF was measured in normally developing control children (n=26) and in individuals affected by congenital syndromes associated with learning disability: either Williams syndrome (WS; n=12) or Down syndrome (DS; n=21). Participants were assessed at three distinct developmental stages: early childhood (2 to 6 years), childhood (8 to 12 years), and adolescence (14 to 20 years). A sample was taken only once from each individual. Serum NGF levels were markedly higher in participants with WS, than DS and control participants. In addition, different developmental profiles emerged in the three groups: while in normally developing individuals NGF levels were higher in early childhood than later on, children with WS showed constantly elevated NGF levels. When compared to control participants, those with DS showed lower NGF levels only during early childhood. Neuropsychological assessment confirmed previously reported differences among the three groups in the development of linguistic/cognitive abilities. Some features of individuals with WS, such as hyperacusis and hypertension, could be related to high-circulating NGF levels.
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