1. Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
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Mariacarolina Salerno, Daniela Melis, Maria Giuseppa Scala, Claudio Pignata, Nicola Improda, Giorgia Minopoli, Loredana Palamaro, Donatella Capalbo, Capalbo, Donatella, Scala, M. G., Melis, D., Minopoli, G., Improda, N, Palamaro, Loredana, Pignata, Claudio, and Salerno, Mariacarolina
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Heart Defects, Congenital ,medicine.medical_specialty ,Mutation, Missense ,Case Report ,Growth hormone insensitivity ,medicine.disease_cause ,Short stature ,Growth hormone deficiency ,Diagnosis, Differential ,GH insensitivity ,Internal medicine ,Clinical heterogeneity ,medicine ,Loose Anagen Hair Syndrome ,Missense mutation ,Humans ,Child ,Growth Disorders ,Mutation ,business.industry ,Noonan Syndrome ,Intracellular Signaling Peptides and Proteins ,Syndrome ,medicine.disease ,Phenotype ,Noonan-like Syndrome with loose anagen hair ,Body Height ,Endocrinology ,Noonan syndrome ,Female ,medicine.symptom ,business ,Noonan like syndrome ,Cognition Disorders ,GHD ,Biomarkers - 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. Since only a few cases of NS/LAH associated to SHOC2 mutations have been so far described, the complex phenotype of the syndrome and the exact mechanism impairing GH/IGFI axis still remain to be elucidated and studies on larger cohort of subjects are needed to better delineate this syndrome.
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