Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of genodermatoses characterized by disorders of cornification. ARCI11 (MIM #602400) includes two syndromes caused by mutations in the ST14 (suppression of tumorigenicity 14) gene: IFAH (autosomal recessive congenital ichthyosis, follicular atrophoderma and hypotrichosis) and ARIH (autosomal recessive ichthyosis and hypotrichosis). All the reported ARCI11 cases so far belonged to consanguineous Turkish or Arab families]. We describe a novel p.Glu519Gln missense mutation in a patient affected by IFAH from a non consanguineous Rumanian family.
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature / Neri, Iria; Virdi, Annalucia; Tortora, Giada; Baldassari, Sara; Seri, Marco; Patrizi, Annalisa. - In: JOURNAL OF DERMATOLOGICAL SCIENCE. - ISSN 0923-1811. - STAMPA. - 81:1(2016), pp. 63-66. [10.1016/j.jdermsci.2015.10.012]
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature
NERI, IRIA;VIRDI, ANNALUCIA;TORTORA, GIADA;BALDASSARI, SARA;SERI, MARCO;PATRIZI, ANNALISA
2016
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of genodermatoses characterized by disorders of cornification. ARCI11 (MIM #602400) includes two syndromes caused by mutations in the ST14 (suppression of tumorigenicity 14) gene: IFAH (autosomal recessive congenital ichthyosis, follicular atrophoderma and hypotrichosis) and ARIH (autosomal recessive ichthyosis and hypotrichosis). All the reported ARCI11 cases so far belonged to consanguineous Turkish or Arab families]. We describe a novel p.Glu519Gln missense mutation in a patient affected by IFAH from a non consanguineous Rumanian family.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.