Mutación de novo I172N en paciente con déficit clásico de 21-hidroxilasa / De novo I172N mutation in a patient with21-hydroxilase deficiency

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Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso / Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case

La forma clásica de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa (21-OHD) se debe a mutaciones del gen CYP21A2. La gran mayoría de los alelos deficientes muestran mutaciones que preexisten en un seudogen homólogo y localizado en tandem: CYP21A1. Los alelos se heredan de los padres portadores, y las mutaciones de novo en el transcurso de la gametogénesis o en el desarrollo fetal son excepcionales. Este artículo describe a una paciente afectada de 21-OHD clásico que presentó en su alelo materno la mutación de novo I172N en heterocigosis compuesta con la mutación grave R356W heredada del padre. La madre de la paciente resultó negativa en el estudio de mutaciones del gen CYP21A2. El estudio complementario de marcadores indirectos tipo microsatélite confirmó una segregación correcta de los alelos parentales. La mutación I172N (en heterocigosis compuesta con mutación nula) da lugar a un fenotipo muy característico neonatal virilizante que no asocia crisis de pérdida salina (AU)

The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting (AU)

Natural bioactive compounds of Citrus limon for food and health.

Citrus genus is the most important fruit tree crop in the world and lemon is the third most important Citrus species. Several studies highlighted lemon as an important health-promoting fruit rich in phenolic compounds as well as vitamins, minerals, dietary fiber, essential oils and carotenoids. Lemon fruit has a strong commercial value for the fresh products market and food industry. Moreover, lemon productive networks generate high amounts of wastes and by-products that constitute an important source of bioactive compounds with potential for animal feed, manufactured foods, and health care. This review focuses on the phytochemistry and the analytical aspects of lemon compounds as well as on the importance for food industry and the relevance of Citrus limon for nutrition and health, bringing an overview of what is published on the bioactive compounds of this fruit.

[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case]. / Síndrome suprarrenogenital congénito virilizante con mutación de novo I172N: estudio de un nuevo caso.

The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting.

Metatropic dysplasia: a case report.

A case of metatropic dysplasia is presented, stressing the utility of prenatal diagnosis.