De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening

Prenat Diagn. 2021 Jan;41(1):11-14. doi: 10.1002/pd.5798. Epub 2020 Sep 9.

Authors

Chidinma Nwakalor¹, Sara Said-Delgado², Shifra Krinshpun³, Milen Velinov^{4

5}

Affiliations

¹ American University of the Caribbean School of Medicine, Cupecoy, Sint Maarten, The Netherlands.
² Department of Obstetrics and Gynecology, Bronx Care, Bronx, New York, USA.
³ Natera, Inc., San Carlos, California, USA.
⁴ Department of Pediatrics, Bronx Care, Bronx, New York, USA.
⁵ Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.

PMID: 32681669
DOI: 10.1002/pd.5798

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Cell-Free Nucleic Acids / analysis*
Costello Syndrome / genetics*
Costello Syndrome / therapy
Female
Fetus / chemistry*
Follow-Up Studies
Genetic Counseling
Genetic Testing / methods
Hispanic or Latino / genetics
Humans
Infant, Newborn
Male
Middle Aged
Mutation / genetics*
Pregnancy
Prenatal Diagnosis / methods*
Proto-Oncogene Proteins p21(ras) / genetics*

Substances

Cell-Free Nucleic Acids
HRAS protein, human
Proto-Oncogene Proteins p21(ras)