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RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
Author(s) -
Rodríguez Fernando,
Ponce Diana,
Berward Francisco J.,
Lopetegui Bernardita,
Cassorla Fernando,
Aracena Mariana
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61203
Subject(s) - craniosynostosis , medicine , noonan syndrome , short stature , hypertelorism , dermatology , trigonocephaly , pediatrics , surgery , anatomy
We report the case of a 14 years and 8 months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, downslanting palpebral fissures, low‐set ears, short neck, and pectus excavatum; all features suggestive of Noonan syndrome with multiple lentigines (NSML). In addition, the patient exhibited craniosynostosis. Molecular analysis of rats sarcoma (RAS)/mitogen‐activated protein kinase (MAPK) pathway genes with high‐resolution melting curve analysis followed by sequencing showed a RAF1 amino acid substitution of valine to glycine at position 263 (p.V263G). The present report provides clinical data regarding the first association of a RAF1 variant and craniosynostosis in a patient with clinical diagnosis of NSML.