![]() This new mutation occurs at the same residue as the constitutively-activating Q209L mutation, commonly seen in tumors. We identified the R183Q mutation in nearly all samples, but one sample exhibited a Q209R mutation. ![]() In this study, we sequenced skin biopsies of capillary malformations from 9 patients. The missense mutation R183Q is the sole GNAQ mutation identified thus far in 90% of SWS-associated or isolated capillary malformations. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the G protein subunit alpha-q protein. Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation.
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