Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Array-CGH has revealed a large number of copy number variations (CNVs) in patients with multiple congenital anomalies and/or mental retardation (MCA/MR). According to criteria recently listed, pathogenicity was clearly suspected for some CNVs but benign CNVs, considered as polymorphisms, have complicated the interpretation of the results. In this study, genomic DNAs from 132 French patients with unexplained mental retardation were analysed by genome wide high-resolution Agilent 44K oligonucleotide arrays. The results were in accordance with those observed in previous studies: the detection rate of pathogenic CNVs was 14.4%. A non-random involvement of several chromosomal regions was observed. Some of the microimbalances recurrently involved regions (1q21.1, 2q23.1, 2q32q33, 7p13, 17p13.3, 17p11.2, 17q21.31) corresponding to known or novel syndromes. For all the pathogenic CNVs, further cases are needed to allow more accurate genotype-phenotype correlations underscoring the importance of databases to group patients with similar molecular data.
Jaillard
Sylvie
S
Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Pontchaillou, Rennes, France. sylvie.jaillard@chu-rennes.fr
Drunat
Séverine
S
Bendavid
Claude
C
Aboura
Azzedine
A
Etcheverry
Amandine
A
Journel
Hubert
H
Delahaye
Andrée
A
Pasquier
Laurent
L
Bonneau
Dominique
D
Toutain
Annick
A
Burglen
Lydie
L
Guichet
Agnès
A
Pipiras
Eva
E
Gilbert-Dussardier
Brigitte
B
Benzacken
Brigitte
B
Martin-Coignard
Dominique
D
Henry
Catherine
C
David
Albert
A
Lucas
Josette
J
Mosser
Jean
J
David
Véronique
V
Odent
Sylvie
S
Verloes
Alain
A
Dubourg
Christèle
C
D002874:Chromosome Mapping; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D005602:France; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D009841:Oligonucleotides / Q000235:genetics; D015203:Reproducibility of Results; D013577:Syndrome
D009841:Oligonucleotides