Article
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
American journal of medical genetics. Part A - 1 Feb 2021
Moreno-García Marta, Arteche-López Ana Rosa, Álvarez-Mora María Isabel, Palma Milla Carmen, Quesada Espinosa Juan Francisco, Lezana Rosales José Miguel, Sánchez Calvín María Teresa, Gómez Manjón Irene, Gómez Rodríguez María José, Mendez-Guerrero Antonio, Villarejo-Galende Alberto
Abstract excerpt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused predominantly by pathogenic variants in NOTCH3 gene. Neither germline nor somatic mosaicism has been previously published in NOTCH3 gene. CADASIL is inherited in an autosomal dominant manner; only rare cases have been associated with de novo pathogenic variants....
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