RESUMEN
Recently autosomal recessively inherited mutations in the gene encoding Jagunal homolog 1 (JAGN1) was described as a novel disease-causing gene of severe congenital neutropenia (SCN) JAGN1-mutant neutrophils were characterized by abnormality in endoplasmic reticulum structure, absence of granules, abnormal N-glycosylation of proteins and susceptibility to apoptosis. These findings imply the role of JAGN1 in neutrophil survival. Here, we report two siblings with a homozygous mutation in JAGN1 gene, exhibiting multisystemic involvement.
Asunto(s)
Proteínas de la Membrana/genética , Mutación , Neutropenia/congénito , Preescolar , Síndromes Congénitos de Insuficiencia de la Médula Ósea , Análisis Mutacional de ADN , Exones , Femenino , Homocigoto , Humanos , Lactante , Masculino , Proteínas de la Membrana/deficiencia , Mutación Missense , Neutropenia/diagnóstico , Neutropenia/genética , Linaje , Fenotipo , HermanosRESUMEN
We report a patient with a rare de novo duplication of 12q23.1-12q24.33 region with a 32.7 Mb gain, having similar features seen in previously reported isolated cases of duplications of the 12q23q24 region, such as growth retardation, neuromotor retardation, corpus callosum agenesis, dysmorphic features such as, hypertelorism, epicanthus, flat nasal bridge, low-set small ears, down-turned corners of the mouth, micrognathia, cryptorchidism and limb anomalies such as pes plano valgus, prominent heels and overriding toes. Our patient has Noonan-like features, such as short stature, short neck, epicanthal folds, ptosis of eyelids, hypertelorism, pectus excavatum, widely spaced nipples and cryptorchidism. Duplication of PTPN11 gene has been postulated as a mechanism for the Noonan syndrome. Phenotypic features and the genes involved in this region are important to further delineate the 12q23q24 phenotype.
