Seudohipoparatiroidismo tipo Ia. Una mutación original / Pseudohypoparathyroidism type Ia - A novel mutation

El seudohipoparatiroidismo tipo Ia (PHP-Ia) resulta de un déficit específico de la proteína Gsα, que se manifiesta por la resistencia a la parathormona y un fenotipo característico, denominado osteodistrofia hereditaria de Albright. Fueron identificadas varias mutaciones en el gen GNAS1 en los individuos con PHP-Ia y seudoseudohipoparatiroidismo. Una sola mutación del gen GNAS1 puede ser responsable de ambas enfermedades. Cuando la anomalía es transmitida por el padre dará lugar a un fenotipo de seudoseudohipoparatiroidismo y cuando lo es por la madre, se manifestará como un PHP-Ia. Los autores presentan el caso de un varón adolescente con PHP-Ia. El estudio del gen GNAS1 reveló la mutación c.899A >.Lys300Ile en el exón 11. Hemos identificado la misma mutación en la madre, que solo presentaba alteraciones somáticas no asociadas a resistencia a la hormona seudoseudohipoparatiroidismo. Esta es una mutación original, aún no descrita en la literatura (AU)

Pseudohypoparathyroidism Ia (PHP-Ia) results from a specific deficiency of the α subunit of stimulatory G protein, manifested by resistance to parathormone and a characteristic phenotype, referred to as Albright hereditary osteodystrophy (AHO). Several mutations were identified in the GNAS1 gene in individuals with PHP-Ia and pseudopseudohypoparathyroidism (PPHP). A single GNAS1 mutation may be responsible for both PHP-Ia e PPHP in the same family, when inherited from the maternal and the paternal allele, respectively. The authors present the case of a teenage boy with PHP- Ia. The study revealed the GNAS1 mutation c.899A>T (p.Lys300Ile) in exon 11. After the genetic study of his parents, we have identified the same mutation in the mother, who had only somatic alterations (AHO), not associated with hormone resistance (PPHP). This is an original mutation, not yet described in the literature (AU)

[Pseudohypoparathyroidism type Ia - a novel mutation]. / Seudohipoparatiroidismo tipo Ia. Una mutación original.

Pseudohypoparathyroidism Ia (PHP-Ia) results from a specific deficiency of the alpha subunit of stimulatory G protein, manifested by resistance to parathormone and a characteristic phenotype, referred to as Albright hereditary osteodystrophy (AHO). Several mutations were identified in the GNAS1 gene in individuals with PHP-Ia and pseudopseudohypoparathyroidism (PPHP). A single GNAS1 mutation may be responsible for both PHP-Ia e PPHP in the same family, when inherited from the maternal and the paternal allele, respectively. The authors present the case of a teenage boy with PHP- Ia. The study revealed the GNAS1 mutation c.899A >T (p.Lys300Ile) in exon 11. After the genetic study of his parents, we have identified the same mutation in the mother, who had only somatic alterations (AHO), not associated with hormone resistance (PPHP). This is an original mutation, not yet described in the literature.