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Frasier syndrome (FS) is a rare inherited kidney disease caused by intron 9 splicing variants of WT1. For wild-type WT1, 2 active splice donor sites in intron 9 cause a mixture of 2 essential transcripts (with or without lysine-threonine-serine [+/KTS or −KTS]), and imbalance of the +KTS/−KTS ratio results in the development of FS.
30 de oct. de 2020 · Signs & Symptoms. Fraser syndrome is characterized by multiple physical abnormalities. Failure of the eyelids to form properly (cryptophthalmos) is the most common abnormality, seen in 93% of affected individuals. Other less common forms of cryptophtalmos seen in these individuals are only one eye completely covered by skin, or one or both eyes ...
Frasier, Síndrome de…, (Frasier syndrome) - Gen WT1 El síndrome de Frasier es una alteración que afecta a los riñones y a los órganos genitales. Se caracteriza por seudohermafrotidismo masculino, en el que existen genitales externos femeninos con genotipo XY, nefropatía y elevado riesgo de desarrollar gonadoblastoma.
Frasier syndrome (FS, OMIM # 136680) is a rare disorder of sex development defined by 46,XY karyotype, gonadal dysgenesis, and progressive glomerulopathy (1). The great majority of cases present normal female internal and external genitalia, streak gonads, and high risk of developing gonadoblastoma.
Denys-Drash syndrome has features similar to another condition called Frasier syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct conditions.
CONCLUSION: Early diagnosis of Frasier Syndrome is essential given the associated risk of malignancy. The low frequency of the disease and the usual association of delayed puberty in patients with chronic diseases may lead to a diagnostic delay. Therefore, reporting the diagnosed cases of this syndrome, as well as its multidisciplinary manage-
