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.
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.
Authors: John C Achermann; Sorahia Domenice; Tania A S S Bachega; Mirian Y Nishi; Berenice B Mendonca Journal: Nat Rev Endocrinol Date: 2015-05-05 Impact factor: 43.330
Authors: S Jaillard; A Bashamboo; L Pasquier; M A Belaud-Rotureau; K McElreavey; S Odent; Célia Ravel Journal: J Assist Reprod Genet Date: 2014-11-12 Impact factor: 3.412
Authors: Eric J Bellefroid; Lucas Leclère; Amandine Saulnier; Marc Keruzore; Maria Sirakov; Michel Vervoort; Sarah De Clercq Journal: Cell Mol Life Sci Date: 2013-03-05 Impact factor: 9.261
Authors: Emmanuèle C Délot; Jeanette C Papp; David E Sandberg; Eric Vilain Journal: Endocrinol Metab Clin North Am Date: 2017-03-28 Impact factor: 4.741
Authors: A C Lima; F Carvalho; J Gonçalves; S Fernandes; P I Marques; M Sousa; A Barros; S Seixas; A Amorim; D F Conrad; A M Lopes Journal: Andrology Date: 2015-07-02 Impact factor: 3.842
Authors: Steven M Harrison; Ian M Campbell; Melise Keays; Candace F Granberg; Carlos Villanueva; Grace Tannin; Andrew R Zinn; Diego H Castrillon; Chad A Shaw; Pawel Stankiewicz; Linda A Baker Journal: Am J Med Genet A Date: 2013-08-05 Impact factor: 2.802