Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
BACKGROUND
XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype. Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations.


METHODS
The aim of this study was to detect microdeletions and duplications by using high-resolution Agilent oligonucleotide arrays in a cohort of 87 patients with syndromic or non-syndromic 46,XY-GD.


RESULTS
In 26 patients, we identified gains or losses in regions including genes involved in XY-GD (DMRT1, SOX9, DAX1) or in regions, which have not been described as polymorphic copy number variants (CNVs).


CONCLUSIONS
This study shows that array comparative genomic hybridization (CGH) analysis is a useful tool for the molecular diagnosis of XY-GD as well as for the identification of potential candidate genes involved in male sexual development.
Ledig
S
S
Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Vesaliusweg 12-14, 48149 Münster, Germany.
Hiort
O
O
Scherer
G
G
Hoffmann
M
M
Wolff
G
G
Morlot
S
S
Kuechler
A
A
Wieacker
P
P
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D015331:Cohort Studies; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics; D005260:Female; D020131:Genes, Duplicate; D056426:Genetic Loci; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D055758:SOX9 Transcription Factor / Q000235:genetics; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
D057137:DAX-1 Orphan Nuclear Receptor; C110547:DMRT1 protein; C539965:NR0B1 protein, human; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors