ESPEYB18 1. Pituitary and Neuroendocrinology Genetics (4 abstracts)
1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.
Vishnopolska SA , Mercogliano MF , Camilletti MA , Mortensen AH , Braslavsky D , Keselman A , Bergadá I , Olivieri F , Miranda L , Marino R , Ramírez P , Pérez GN , Patiño Mejia H , Ciaccio M , Di Palma MI , Belgorosky A , Martí Marcelo A , Kitzman JO , Camper SA & Pérez-Millán MI
J Clin Endocrinol Metab. 2021 Mar 17:dgab177. doi: 10.1210/clinem/dgab177. PMID: 33729509.
Vishnopolska et al. conducted a comprehensive evaluation of 67 hypopituitarism candidate genes in 170 congenital hypopituitarism (CH) patients from Argentina by using small molecule molecular inversion probes followed by sequencing (smMIPS) panel. 57 patients had isolated growth hormone deficiency and 113 patients had combined pituitary hormone deficiency (CPHD). Plausible disease associated variants were identified in 26 cases (15.3%), including 13 cases with unique variants meeting the American College of Medical Genetics criteria for pathogenicity or likely pathogenicity. Variants were identified in previously reported CH candidate genes, including: LHX3, LHX4, GLI2, OTX2, HESX1, FOXA2, BMP4, FGFR1, PROKR2, and PNPLA6. In addition, this study added 4 new genes to the list of CH candidate genes: BMP2, HMGA2, HNF1A, and NKX2-1.
Volume 18
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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