ESPEYB15 6 Gender Dysphoria and Disorders of Sex Development New function of old genes (1 abstracts)
6.14 GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes
Martinez de LaPiscina I , de Mingo C , Riedl S , Rodriguez A , Pandey AV , Fernández-Cancio M , Camats N , Sinclair A , Castaño L , Audi L & Flück CE
Endocrinology and Diabetes Research Group, BioCruces Health Research Institute, Cruces University Hospital, CIBERDEM, CIBERER, UPV-EHU, Barakaldo, Spain
To read the full abstract: Front Endocrinol (Lausanne). 2018 Apr 4;9:142
Here, Martinez de LaPiscina et.al. investigated gene-gene interactions in 46,XY DSD. GATA4 is known to be associated with 46,XY DSD and has also been described to cause congenital heart defects. The authors characterize 3 individuals with 46,XY DSD, and GATA4 variants; 1 patient with and 2 without congenital heart defects. They show that additional mutations/variations in other genes, LRP4 and LHCGR, resulted in a different phenotypic manifestation of GATA4 mutations, with or without concomitant heart defect. This paper highlights the complexity of the genetics in genital development and its interactions with other genes. The use of whole genome sequencing has opened a whole new era of genetics. It is likely that in the future complex interactions between two or more genes in the pathways involved in sex determination and differentiation will be revealed.
Volume 15
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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