From clinical suspect to molecular confirmation of noonan syndrome; contribution of "best practice" genetic counseling and new technical possibilities

Nenad Bukvic, Dora Varvara, Cesare Rossi, Maria Felicia-Faienza, Francesco Susca, Nicoletta Resta
2015 Genetika  
Objective examination: H 138 cm, (<3°); W 33 kg, (<3°), no menarche, hypertelorism, eyelids ptosis with down slanting palpebral fissures, low-set and posteriorly rotated ears, high-arched palate, micrognathia, short and webbed neck, low hairline at the back of the neck, pectus excavatum, prominent scoliosis, joint hyperextensibility, bilateral pes planus and mitral valve prolapse disclosed by US. Phenotype of our patient was suggestive to NS, thus further mutational screening has been
more » ... has been requested. Missense mutation in exon 2 of KRAS gene (c.40G>A; p.Val14Ile) has been identified. Even though KRAS mutations are usually associated with NS severe phenotype with cardiac involvement (hypertrophic cardiomyopathy), this finding is not present in our patient.
doi:10.2298/gensr1503877b fatcat:ha5ipphcxjdgrhmnecwgrsn6se