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Open Access 01.12.2012 | Case report

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

verfasst von: Donatella Capalbo, Maria Giuseppa Scala, Daniela Melis, Giorgia Minopoli, Nicola Improda, Loredana Palamaro, Claudio Pignata, Mariacarolina Salerno

Erschienen in: Italian Journal of Pediatrics | Ausgabe 1/2012

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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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Titel: Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
verfasst von: Donatella Capalbo
Maria Giuseppa Scala
Daniela Melis
Giorgia Minopoli
Nicola Improda
Loredana Palamaro
Claudio Pignata
Mariacarolina Salerno
Publikationsdatum: 01.12.2012
Verlag: BioMed Central
Erschienen in: Italian Journal of Pediatrics / Ausgabe 1/2012
Elektronische ISSN: 1824-7288
DOI: https://doi.org/10.1186/1824-7288-38-48

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