De novo MYH9 mutation in congenital scalp hemangioma.

Autor:	Fomchenko EI; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA., Duran D; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA., Jin SC; Department of Genetics, Yale School of Medicine, New Haven, Connecticut 06519, USA., Dong W; Department of Genetics, Yale School of Medicine, New Haven, Connecticut 06519, USA., Erson-Omay EZ; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA., Antwi P; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA., Allocco A; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA., Gaillard JR; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA., Huttner A; Department of Pathology, Yale School of Medicine, New Haven, Connecticut 06519, USA., Gunel M; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA.; Centers for Mendelian Genomics and Yale Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut 06519, USA., DiLuna ML; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA.; Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut 06519, USA., Kahle KT; Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut 06519, USA.; Centers for Mendelian Genomics and Yale Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut 06519, USA.; Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut 06519, USA.; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, Connecticut 06519, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Aug 01; Vol. 4 (4). Date of Electronic Publication: 2018 Aug 01 (Print Publication: 2018).
DOI:	10.1101/mcs.a002998
Abstrakt:	Congenital hemangiomas are tumor-like vascular malformations with poorly understood pathogenesis. We report the case of a neonate with a massive congenital scalp hemangioma that required urgent neurosurgical removal on the second day of life because of concern for high-flow arteriovenous shunting. Exome sequencing identified a rare damaging de novo germline mutation in MYH9 (c.5308C>T, p.[Arg1770Cys]), encoding the MYH9 nonmuscle myosin IIA. MYH9 has a probability of loss-of-function intolerance (pLI) score of >0.99 and is highly intolerant to missense variation ( z score = 5.59). The p.(Arg1770Cys) mutation substitutes an evolutionarily conserved amino acid in the protein's critical myosin tail domain and is predicted to be highly deleterious by SIFT, PolyPhen-2, MetaSVM, and CADD. MYH9 is a known regulator of cytokinesis, VEGF-regulated angiogenesis, and p53-dependent tumorigenesis. These findings reveal a novel association of germline de novo MYH9 mutation with congenital hemangioma. (© 2018 Fomchenko et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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