Chapter

Molecular Analyses of Malformation Syndromes

Moyra Smith

in Phenotypic Variation

Published on behalf of Oxford University Press

Published in print February 2011 | ISBN: 9780195379631
Published online October 2012 | e-ISBN: 9780199975211 | DOI: http://dx.doi.org/10.1093/med/9780195379631.003.0010
Molecular Analyses of Malformation Syndromes

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CHARGE Syndrome represents an example of a condition with a wide range of phenotypic abnormalities caused by defects in one gene that encodes a protein that regulates the expression of a number of different genes and plays a key role in development. JOUBERT SYNDROME (JS) and JOUBERT-RELATED DISORDERS (JSRD) are examples of conditions with highly similar phenotypic manifestations resulting from defects in a number of different genes. Mutations in a single gene can lead to different histological phenotypes (Allamand et al. ( 2006 ) reported that four types of muscular dystrophy that were originally considered to be distinct entities turned out to result from mutations in a single gene) and phenotypic overlap, or related dysmorphology syndromes caused by mutations in different genes in a specific pathway is also covered (Noonan syndrome, Costello syndrome, and cardio-facial cutaneous syndrome are developmental disorders that have phenotypic features in common and share a common etiological pathway.) Finally, Neurofibromin, encoded by the Neurofibromatosis 1 gene (NF1) acts as a RAS GTPase and down-regulates RAS activity. The gene SPRED1 encodes a product that acts as a negative regulator of the RAS–RAF interaction. Mutations in the SRED1 gene have recently been found to cause a Neurofibromatosis-like syndrome.

Chapter.  2739 words. 

Subjects: Clinical Genetics ; Clinical Cytogenetics and Molecular Genetics

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