Orofaciodigital Syndromes Clinical Trial
Official title:
Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
The aim of this multicentre study will be to better describe the clinical characteristics
and the etiological bases of patients with OFD syndrome by identifying new genes involved in
OFD syndrome. These results will make it possible, from patients who have been clearly
identified from a clinical, cytogenetic and molecular point of view, to determine a study
strategy in such patients. The data obtained will be used to guide clinical geneticists in
genetic counselling for patients and their families.
Identification of the molecular bases of the different OFD syndromes will make it possible
to determine whether or not they belong to the group of ciliopathies like type I OFD and to
understand their physiopathological bases.
This study will also make it possible to better characterise the phenotype of boys with
syndromic mental retardation related to the OFD1 gene and thus to define the clinical
criteria of the study of this gene in boys with mental retardation.
The complete absence of knowledge concerning the genetic bases of OFD syndromes, apart from
type I, the presence of a large collection of samples from patients with OFD syndrome at
Dijon CHU, the recognition of the diagnostic laboratory for syndromic OFD at the
international level as well as the technical platform and expertise in molecular cytogenetic
methods including CGH-array and molecular genetics (sequencing, quantitative PCR, fragment
analysis) at the Cytogenetics and Molecular Biology laboratories at Dijon CHU justify the
implementation of such a study in 2010.
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Observational Model: Case-Only