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:
Molecular Analyses of Malformation Syndromes

More Like This

Show all results sharing these subjects:

  • Clinical Genetics
  • Clinical Cytogenetics and Molecular Genetics


Show Summary Details


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

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or purchase to access all content.