title: Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.
abstract: Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis, the clinical phenotype and pathogenetic mechanism underlying short stature. In particular, while both the patients exhibited a severe short stature, GH/IGFI axis functional evaluation revealed a different pathogenetic alteration, suggesting in one patient an upstream alteration (typical GHD) and in the other one a peripheral GH insensitivity.
authors.affiliation: Department of Pediatrics, Federico II University of Naples, Naples, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Capalbo
authors.forename: Maria Giuseppa
authors.initials: MG
authors.lastname: Scala
authors.forename: Daniela
authors.initials: D
authors.lastname: Melis
authors.forename: Giorgia
authors.initials: G
authors.lastname: Minopoli
authors.forename: Nicola
authors.initials: N
authors.lastname: Improda
authors.forename: Loredana
authors.initials: L
authors.lastname: Palamaro
authors.forename: Claudio
authors.initials: C
authors.lastname: Pignata
authors.forename: Mariacarolina
authors.initials: M
authors.lastname: Salerno
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D001827:Body Height / Q000235:genetics; D002648:Child; D003072:Cognition Disorders / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D058247:Loose Anagen Hair Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome
chemical_list: D015415:Biomarkers; D047908:Intracellular Signaling Peptides and Proteins; C112913:SHOC2 protein, human