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dc.contributor.author Moran Espinosa, Mari Carmen
dc.contributor.author Diaz García, Héctor
dc.contributor.author Sánchez Urbina, Rocío
dc.contributor.author Granados Riveron, Javier T.
dc.contributor.author Rodriguez Piña, Miriam Deyanira
dc.contributor.author Avilés García, Ángeles Leyda
dc.contributor.author Rubio Leal, Miguel Ángel
dc.contributor.author Martínez Camacho, Karla Ariadna
dc.contributor.author MENDIETA ZERON, HUGO
dc.date.accessioned 2024-10-12T03:58:51Z
dc.date.available 2024-10-12T03:58:51Z
dc.date.issued 2024-06-22
dc.identifier.issn 2090-2441
dc.identifier.uri http://hdl.handle.net/20.500.11799/141337
dc.description.abstract Background: Pheochromocytoma is a rare disease, and its familial occurrence is quite uncommon. The aim of this paper is to report a three‑generation phenotypical expression of a case familial occurrence of pheochromocytoma. Case presentation A 25‑year‑old female, with a history of adrenalectomy for pheochromocytoma, arrived at the shock room during her third pregnancy with an adrenergic crisis and hypoglycemia. To prevent perinatal complications, the patient was stabilized and the newborn was delivered through a Kerr‑type cesarean section. A detailed history revealed that the paternal grandfather of the patient had an unilateral pheochromocytoma, whereas her paternal uncle had a bilateral pheochromocytoma. Additionally, a brother of the patient presented a unilateral pheochromocytoma. Amplicons for PCR assays were designed to span the protein‑coding segments of the three Von Hippel–Lindau (VHL) exons, and the PCR products were sequenced using the Sanger method. In the trace of exon 3, we detected in the sample of the proband a heterozygous guanine to adenine transition (NM_000551.4 c. 552G > A) within the protein‑coding segment of exon 3 of the VHL gene, which leads to a substitution of the arginine residue at position 161 by a glutamine residue in the encoded peptide (NP_000542.1p.R161Q). This mutation was absent in two unaffected daughters. Conclusion A VHL mutation was suspected and confirmed in this family that was not transmitted to a fourth generation. This case illustrates the importance of molecular genetics methodologies to assist genetic counseling in cases of pheochromocytoma where familial aggregation is presumed. es
dc.language.iso eng es
dc.publisher Egyptian Journal of Medical Human Genetics es
dc.rights openAccess es
dc.rights.uri http://creativecommons.org/licenses/by/4.0 es
dc.subject VHL mutation es
dc.subject Familial pheochromocytoma es
dc.subject.classification MEDICINA Y CIENCIAS DE LA SALUD es
dc.title VHL mutation as a cause of three generations familial pheochromocytoma es
dc.type Artículo es
dc.provenance Científica es
dc.road Dorada es
dc.ambito Nacional es
dc.relation.vol 25
dc.relation.no 69
dc.validacion.itt No es


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  • Título
  • VHL mutation as a cause of three generations familial pheochromocytoma
  • Autor
  • Moran Espinosa, Mari Carmen
  • Diaz García, Héctor
  • Sánchez Urbina, Rocío
  • Granados Riveron, Javier T.
  • Rodriguez Piña, Miriam Deyanira
  • Avilés García, Ángeles Leyda
  • Rubio Leal, Miguel Ángel
  • Martínez Camacho, Karla Ariadna
  • MENDIETA ZERON, HUGO
  • Fecha de publicación
  • 2024-06-22
  • Editor
  • Egyptian Journal of Medical Human Genetics
  • Tipo de documento
  • Artículo
  • Palabras clave
  • VHL mutation
  • Familial pheochromocytoma
  • Los documentos depositados en el Repositorio Institucional de la Universidad Autónoma del Estado de México se encuentran a disposición en Acceso Abierto bajo la licencia Creative Commons: Atribución-NoComercial-SinDerivar 4.0 Internacional (CC BY-NC-ND 4.0)

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