De novo MYH9 mutation in congenital scalp hemangioma

Elena I. Fomchenko, Daniel Duran, Sheng Chih Jin, Weilai Dong, E. Zeynep Erson-Omay, Prince Antwi, August Allocco, Jonathan R. Gaillard, Anita Huttner, Murat Gunel, Michael L. Diluna, Kristopher T. Kahle

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9 Scopus citations


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.

Original languageEnglish
Article numbera002998
JournalCold Spring Harbor molecular case studies
Issue number4
StatePublished - Aug 2018


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