RESUMEN
ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Here, we report on an 8-year-old boy with aniridia, polar cataract, and lens subluxation along with neuropsychomotor and speech delays. Karyotype evaluation showed an interstitial deletion including region 11p13-p14, confirming the diagnosis of WAGRO syndrome. In cases of aniridia, a diagnosis of WAGRO syndrome should be considered.
RESUMO A aniridia é uma doença ocular congênita com grau variável de hipoplasia ou ausência do tecido da íris. É causada pela perda de função do gene PAX6 e pode ser uma anormalidade ocular isolada ou parte de uma síndrome. WAGRO refere-se a uma condição genética rara que leva ao tumor de Wilms, aniridia, anomalias geniturinárias, déficit intelectual e obesidade e é causada por uma deleção do braço curto do cromossomo 11 (11p), onde o gene PAX6 está localizado. Aqui, nós relatamos um menino de 8 anos de idade com aniridia, catarata polar e subluxação do cristalino, além de retardo neuropsicomotor e de fala. A avaliação cariotípica revelou uma deleção intersticial envolvendo a região 11p13-p14, confirmando o diagnóstico da síndrome WAGRO. Em casos de aniridia, um diagnóstico de síndrome de WAGRO deve ser considerado.
Asunto(s)
Humanos , Masculino , Niño , Catarata/diagnóstico , Aniridia/diagnóstico , Subluxación del Cristalino/diagnóstico , Síndrome WAGR/diagnóstico , Obesidad/diagnóstico , Catarata/genética , Cromosomas Humanos Par 11/genética , Aniridia/genética , Subluxación del Cristalino/genética , Deleción Cromosómica , Síndrome WAGR/genética , Cariotipo , Obesidad/genéticaRESUMEN
Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13.5 yr old boy and sister with a same terminal deletion of Xp22.2 resulting in the absence of genes from the telomere of Xp to GPR143 of Xp22. The boy manifested the findings of all of the disorders mentioned above. We began a testosterone enanthate monthly replacement therapy. His sister, 11 yr old, manifested only Leri-Weill dyschondrosteosis, and had engaged in growth hormone therapy for 3 yr. To the best of our knowledge, this is the first report of a male with a 9.7 Mb terminal Xp deletion including the OA1 locus in Korea.
Asunto(s)
Adolescente , Niño , Femenino , Humanos , Masculino , Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos X , Proteínas del Ojo/genética , Sitios Genéticos , Hormona del Crecimiento/uso terapéutico , Glicoproteínas de Membrana/genética , Telómero/genética , Síndrome WAGR/diagnósticoRESUMEN
The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13. It is a contiguous gene deletion syndrome, and WAGR is an acronym for the primary features: W for Wilms tumor, A for aniridia, G for genital anomalies, and R for mental retardation. Wilms tumor and male genital anomalies are caused by deletion of the WT1 tumor-suppressor gene, and aniridia is caused by deletion of PAX6 ocular developmental gene. Mental retardation is presumed to be a consequence of deletion of multiple as yet unidentified genes in the region. Individuals with the WAGR syndrome have a high risk for developing Wilms tumor and late-onset renal failure, and should be monitored for these complications.
Asunto(s)
Aniridia/genética , Proteínas del Ojo/genética , Eliminación de Gen , Genitales Masculinos/anomalías , Proteínas de Homeodominio/genética , Humanos , Lactante , Masculino , Discapacidad Intelectual/genética , Factores de Transcripción Paired Box/genética , Proteínas Represoras/genética , Síndrome WAGR/diagnóstico , Tumor de Wilms/diagnósticoRESUMEN
WAGR Syndrome is an acronym for a rare constellation of congenital abnormalities which include Wilms' tumor, Aniridia, Genito-urinary malformations and mental Retardation. Fewer than fifty patients of this complex have been described in the literature. We report a case of WAGR syndrome, with Stage-IV Wilms' tumor and intracaval extension, treated by multimodal therapy.