Behavioral phenotype of Noonan-like syndrome with loose anagen hair

• DOI: 10.1192/j.eurpsy.2022.1172
• Publication Date: 2022-09-02T06:42:48Z
• Authors: N. Bouayed Abdelm...
• Keywords: Noonan Syndrome; PTPN11; Costello syndrome

Introduction Noonan-like syndrome with loose anagen hair (NSLH MIM 607721) is associated to mutations in PTPN11, RAF1, BRAF and SHOC2 genes. Objectives Here, we report behavioral phenotype of a child suspected have NSLH. Methods A 2-years-old Tunisian harboring severe pulmonic valvular stenosis was referred our genetic counselling for assessment. Medical dysmorphology, cytogenetic analysis as well exploration RAS-MAPK pathway genes were conducted. Results The had short stature ectodermal features including ichthyotic skin thin-soft nails. He has specific appearance NS features. In fact, he small nasal tip, thick lips sticking-out rotated ears. harbored typical voice ungrowing thin hair, sparse pale scalp eyebrows. showed cognitive deficits mental retardation hyperactive behavior. Considered having NSLH, revealed 46,XY formula, but molecular screening BRAF, RIT1 negative. Conclusions Mutations within the RAS‐MAPK signaling affect neurophysiologic activity brain regions underlying attention executive functions. Children rasopathies demonstrated higher rates deficit-hyperactivity (ADHD) autism spectrum disorders. However, no studies examined specifically aspects various types Rasopathies. recent study that ADHD seems be children NSLH mutation, which case patient. We suggest assessment inattentive hyperactivity symptoms should consider Rasopathies screening. Disclosure No significant relationships.