The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development

• Published in: Molecular biology reports Vol. 46; no. 5; pp. 5595 - 5601
• Main Authors: Nagy, Orsolya, Kárteszi, Judit, Hartwig, Marianna, Bertalan, Rita, Jávorszky, Eszter, Erhardt, Éva, Patócs, Attila, Tornóczky, Tamás, Balogh, István, Ujfalusi, Anikó
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.10.2019; Springer Nature B.V
• Subjects: Adrenal glands; Animal Anatomy; Animal Biochemistry; Biomedical and Life Sciences; case studies; Copy number; Cytogenetics; Diagnosis; Differences of sex development; Disorder of Sex Development, 46,XY - diagnosis; Disorder of Sex Development, 46,XY - genetics; Disorders of Sex Development - genetics; DNA Copy Number Variations - genetics; DNA microarrays; Etiology; Exons; Exons - genetics; Female; females; Gene deletion; Genes; Genetic screening; Gonadal dysgenesis; Gonads; heterozygosity; Heterozygote; Histology; Humans; karyotyping; Life Sciences; microarray technology; molecular biology; Morphology; Multiplex Polymerase Chain Reaction - methods; Mutation - genetics; Nucleotide sequence; patients; phenotype; Phenotypes; prognosis; Sequence Deletion - genetics; sexual development; Sexual Development - genetics; Short Communication; Steroidogenic Factor 1 - genetics; Testis - abnormalities; Transcription; transcription factors; Gonadal dysgenesis; 46,XY DSD; Novel partial deletion; MLPA; NR5A1

Gonadal dysgenesis (GD) is a rare cause of differences of sex development (DSD) with highly variable clinical and genetic conditions. Although identification of the causative genetic alterations can offer a clearer prognosis and personalized management to patients, more than 50% of the DSD cases sti...