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Brief Summary: This elegant study analysed a phenotype-driven screen for developmental lethal mouse genes to identify candidate genes that drive hypothalamo-pituitary phenotypes.The authors used a publicly-available phenotype-driven screen, performed by the mouse models phenotyping facility at the DMDD Wellcome Sanger Institute, to identify key genes important in pituitary development. High-Resolution Episcopic Microscopy (HREM) from 209 knockout lines w...

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ey0021.1-9 | Novel Genes | ESPEYB21

1.9. Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

J Martinez-Mayer , S Vishnopolska , C Perticarari , LI Garcia , M Hackbartt , M Martinez , J Zaiat , A Jacome-Alvarado , D Braslavsky , A Keselman , I Bergada , R Marino , P Ramirez , NP Garrido , M Ciaccio , Palma MI Di , A Belgorosky , MV Forclaz , G Benzrihen , S D'Amato , ML Cirigliano , M Miras , AP Nunez , L Castro , MS Mallea-Gil , C Ballarino , L Latorre-Villacorta , AC Casiello , C Hernandez , V Figueroa , G Alonso , A Morin , Z Guntsche , H Lee , E Lee , Y Song , MA Marti , MI Perez-Millan

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...

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ESPE Yearbook of Paediatric Endocrinology

1.6. Knockout mice with pituitary malformations help identify human cases of hypopituitarism

1.9. Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

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