Asunto(s)
Hemorragia Gastrointestinal , Hemostáticos , Polvos , Stents Metálicos Autoexpandibles , Humanos , Hemorragia Gastrointestinal/etiología , Hemorragia Gastrointestinal/terapia , Hemostasis Endoscópica/métodos , Hemostasis Endoscópica/instrumentación , Hemostáticos/administración & dosificación , MineralesRESUMEN
Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwide. By using whole-genome oligonucleotide array CGH, we have identified deletions at 13q32.1 segregating with MCOR in six families originating from France, Japan, and Mexico. Breakpoint sequence analyses showed nonrecurrent deletions in 5/6 families. The deletions varied from 35 kbp to 80 kbp in size, but invariably encompassed or interrupted only two genes: TGDS encoding the TDP-glucose 4,6-dehydratase and GPR180 encoding the G protein-coupled receptor 180, also known as intimal thickness-related receptor (ITR). Unlike TGDS which has no known function in muscle cells, GPR180 is involved in the regulation of smooth muscle cell growth. The identification of a null GPR180 mutation segregating over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotype, is consistent with the view that deletions of this gene, with or without the loss of elements regulating the expression of neighboring genes, are the cause of MCOR.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 13/genética , Trastornos de la Pupila/congénito , Receptores de Superficie Celular/genética , Secuencia de Bases , Hibridación Genómica Comparativa , Componentes del Gen , Genes Dominantes/genética , Humanos , Hidroliasas/genética , Datos de Secuencia Molecular , Mutación/genética , Análisis de Secuencia por Matrices de Oligonucleótidos , Linaje , Trastornos de la Pupila/genética , Trastornos de la Pupila/patología , Receptores Acoplados a Proteínas G , Análisis de Secuencia de ADNRESUMEN
The term "juvenile-like (inflammatory/hyperplastic) mucosal polyps" (JLIHMP) has been recently introduced to describe a spectrum of polypoid lesions in patients with neurofibromatosis type 1 (NF-1). Due to the scarce number of reported cases and histopathological similarities with entities such as sporadic/syndromic juvenile polyps or inflammatory fibroid polyps, this entity remains a subject of debate. We describe herein a case of multiple JLIHMPs in a patient with NF-1, and we document the presence of low-grade dysplasia within one of these polyps.