Mental Retardation Clinical Trial
Official title:
Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology
Comparative genomic hybridization (CGH) array technology has been used in numerous studies on mental retardation, and few chromosomal abnormalities have been identified in patients. Because chromosomal abnormalities have still been associated with obesity, we can expect that syndromic obesity is also associated with small deletions/duplications. Characterization of deleted or duplicated loci in these obese patients would mean that these loci include genes implicated in obesity. This will permit to propose new gene(s) involved in obesity. (In french: Caractérisation phénotypique et recherche de REManiements chromosomiques chez des patients présentant une OBésité syndromique de cause non identifiée : REMOB)
With the introduction of array comparative genomic hybridization (CGH), genome-wide high
resolution analysis for DNA copy number alterations became feasible. This technology has
been principally used in patients with mental retardation. Depending on the eligibility
criteria and resolution of the array, around 10 % of patients with mental retardation are
found with cryptic chromosomal imbalance. This figure arises 20 % for patients with mental
retardation and multiple congenital anomalies. Alteration of the lipid metabolism and/or
regulation of satiety, obesity (except in presence of other "exogen" factors) can be
considered as a developmental disorder. Also, different syndromes with obesity have been
associated with chromosomal abnormalities, such as 1p36 deletion syndrome, 2q37 deletion
syndrome, chromosome 14 maternal disomy … So we can expect that syndromic obesity is
similarly associated with sub cryptic chromosomal abnormalities. Some "isolated" patients
with obesity have been described with cryptic chromosomal imbalance found by array CGH, but
no study has been realized in cohorts of patients selected for syndromic obesity.
Characterization of cryptic chromosomal anomaly(ies) in a patient will also be useful to
precise the management and follow-up of the patient and to give the family an adapted
genetic counselling.
We will define a cohort of patients with syndromic obesity and propose them to realize a
first screening looking for the "common" aetiologies of syndromic obesity. If this screening
is normal, array CGH will be realized. This analysis implies a blood sampling of 5 ml in
patient and his parents.
Genes present at the deleted or duplicated loci characterized in the patients will be study
to determine if some could be specifically implicated in the development of obesity. These
same genes could be implicated in isolated obesity. Our study will be also useful to precise
the aetiological screening of syndromic obesity, and determine the place of array-CGH.
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Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic
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