Journal article
De novo MYH9 mutation in congenita scalp hemangioma
Cold Spring Harbor molecular case studies, v 4(4), 002998
01 Aug 2018
PMID: 29903892
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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.
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Details
- Title
- De novo MYH9 mutation in congenita scalp hemangioma
- Creators
- Elena I. Fomchenko - Yale UniversityDaniel Duran - Yale UniversitySheng Chih Jin - Yale UniversityWeilai Dong - Yale UniversityE. Zeynep Erson-Omay - Yale UniversityPrince Antwi - Yale UniversityAugust Allocco - Yale UniversityJonathan R. Gaillard - Yale UniversityAnita Huttner - Yale UniversityMurat Gunel - Yale UniversityMichael L. DiLuna - Yale UniversityKristopher T. Kahle - Yale University
- Publication Details
- Cold Spring Harbor molecular case studies, v 4(4), 002998
- Publisher
- Cold Spring Harbor Lab Press, Publications Dept
- Number of pages
- 9
- Grant note
- National Center for Advancing Translational Sciences (NCATS); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (RDCRN) National Institutes of Health (NIH) Center for Mendelian Genomics; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Neurology
- Web of Science ID
- WOS:000450957400006
- Scopus ID
- 2-s2.0-85060344913
- Other Identifier
- 991022004956004721
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- Web of Science research areas
- Medicine, Research & Experimental