ONLINE MUTATION REPORT Four common glomulin mutations cause two thirds of glomuvenous malformations (‘‘familial glomangiomas’’): evidence for a founder effect
نویسندگان
چکیده
P Brouillard, M Ghassibé, A Penington, L M Boon, A Dompmartin, I K Temple, M Cordisco, D Adams, F Piette, J I Harper, S Syed, F Boralevi, A Taı̈eb, S Danda, E Baselga, O Enjolras, J B Mulliken, M Vikkula . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
BACKGROUND Glomuvenous malformation (GVM) ("familial glomangioma") is a localised cutaneous vascular lesion histologically characterised by abnormal smooth muscle-like "glomus cells" in the walls of distended endothelium lined channels. Inheritable GVM has been linked to chromosome 1p21-22 and is caused by truncating mutations in glomulin. A double hit mutation was identified in one lesion. Thi...
متن کاملMutation analysis in Irish families with glomuvenous malformations.
BACKGROUND Glomuvenous malformations (GVMs) are rare bluish lesions that can affect the skin and mucosal surfaces. They represent defects in vasculogenesis. Lesions can occur sporadically or in an autosomal dominant mode of inheritance. Recent studies have shown that mutations in the glomulin gene (GLMN) on chromosome 1p21-22 are responsible for familial GVMs. OBJECTIVES To search for mutatio...
متن کاملMutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells in the media surrounding distended vascular lumens. We have shown that heritable GVMs link to a 4--6-cM region in chromosome 1p21-22. We also identified linkage disequilibrium that allowed a narrowing of this VMGLOM locus to 1.48 Mb. Herein, we report the identificatio...
متن کاملFamilial Disseminated Cutaneous Glomuvenous Malformation: Treatment with Polidocanol Sclerotherapy
Glomuvenous malformations (GVMs) present as asymptomatic multiple pink-to-blue nodules or plaques. Disseminated lesions are rare, representing 10% of all the cases. Familial cases are caused by mutations in the glomulin gene. A young male presented with multiple bluish-to-dusky red-coloured nodules 10-15 in numbers over the trunk, limbs and buttocks since 12 years of age. They ranged in size fr...
متن کاملGlomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.
Mutations in the glomulin gene result in dominantly inherited vascular lesions of the skin known as glomuvenous malformations (GVMs). These lesions are histologically distinguished by their distended vein-like channels containing characteristic 'glomus cells', which appear to be incompletely or improperly differentiated vascular smooth muscle cells (VSMCs). The function of glomulin is currently...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2005