Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
نویسندگان
چکیده
Viviana Cordeddu1, Elia Di Schiavi2, Len A Pennacchio3,4, Avi Ma’ayan5, Anna Sarkozy6, Valentina Fodale1,7, Serena Cecchetti8, Alessio Cardinale9, Joel Martin4, Wendy Schackwitz4, Anna Lipzen4, Giuseppe Zampino10, Laura Mazzanti11, Maria C Digilio12, Simone Martinelli1, Elisabetta Flex1, Francesca Lepri6, Deborah Bartholdi13, Kerstin Kutsche14, Giovanni B Ferrero15, Cecilia Anichini16, Angelo Selicorni17, Cesare Rossi18, Romano Tenconi19, Martin Zenker20, Daniela Merlo8,9, Bruno Dallapiccola6,7, Ravi Iyengar5, Paolo Bazzicalupo2, Bruce D Gelb21,22 & Marco Tartaglia1,22
منابع مشابه
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis
We report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.
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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 ...
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