Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
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چکیده
منابع مشابه
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neur...
متن کاملThe ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics
DEAR EDITOR, GNA11 and GNAQ are highly homologous genes encoding different Ga subunits of heterotrimeric G-proteins. We recently described postzygotic activating mutations in GNA11 or GNAQ as causes of phakomatosis pigmentovascularis (PPV), and GNAQ mosaicism as a cause of extensive dermal melanocytosis (EDM). GNAQ mosaicism has previously been found to cause Sturge–Weber syndrome (SWS) and iso...
متن کاملFrequent GNAQ, GNA11, and EIF1AX Mutations in Iris Melanoma.
Purpose The most common malignant intraocular tumors with a high mortality in adults are uveal melanomas. Uveal melanomas arise most frequently in the choroid or ciliary body (97%) and rarely in the iris (3%). Whereas conjunctival and posterior uveal (ciliary body and choroidal) melanomas have been studied in more detail genetically, little data exist regarding iris melanomas. Methods In our ...
متن کاملOncogenic GNAQ and GNA11 Mutations in Uveal Melanoma in Chinese
PURPOSE To examine whether GNAQ and GNA11 somatic mutations previously identified in uveal melanomas of Caucasians are associated with uveal melanomas in Chinese patients. METHODS Uveal melanomas treated by primary enucleation in Chinese patients underwent a mutation analysis of GNAQ and GNA11 with sequencing of exon 5 and exon 4. RESULTS The study included 50 patients with uveal melanoma a...
متن کاملPhakomatosis pigmentovascularis type IIa
Phakomatosis Pigmentovascularis (PPV) is a rare cutaneous congenital malformation syndrome, defined as simultaneous occurrence of congenital cutaneous vascular and pigmentary anomalies. As most of the reported cases are from Far East countries, especially Japan, we reported a case of PPV type IIa in an Iranian patient. This case was unusual because of the coexistence of unilateral extensive por...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2016
ISSN: 0022-202X
DOI: 10.1016/j.jid.2015.11.027