A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer.

Autor:	Cuenca D; Department of Endocrinology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Ventura-Gallegos JL; Unit of Biochememistry, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Almeda-Valdes P; Department of Endocrinology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Tusié-Luna MT; Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080, Mexico City, Mexico., Reza-Albarran A; Department of Endocrinology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Ventura-Ayala L; Unit of Biochememistry, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Ordoñez-Sánchez ML; Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080, Mexico City, Mexico., Segura-Kato Y; Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080, Mexico City, Mexico., Gomez-Perez FJ; Department of Endocrinology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Conte MP; Department of Endocrinology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Gonzalez LR; Department of Endocrinology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico., Zentella-Dehesa A; Unit of Biochememistry, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Belisario Dominguez, Sección XVI, Tlalpan, 14080 Mexico City, Mexico.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Mar 13; Vol. 35, pp. 100965. Date of Electronic Publication: 2023 Mar 13 (Print Publication: 2023).
DOI:	10.1016/j.ymgmr.2023.100965
Abstrakt:	Severe insulin resistance can be caused by rare genetic defects in the insulin receptor known as insulin receptoropathies. These genetic defects cause a wide spectrum of clinical manifestations ranging from mild syndromes to lethal disorders. Among those is the HAIR-AN an extreme subtype of polycystic ovary syndrome (PCOS). We present a case of a 29-year-old woman with amenorrhea, severe insulin resistance, hirsutism, and acanthosis nigricans who also developed endometrial cancer. She was found to carry a novel heterozygous nonsense mutation insulin receptor gene ( INSR). The mutation was inherited from the mother. Levels of insulin receptor and AKT were measured using Western-Blot from peripheral blood mononuclear cells and were both decreased. Thus, we conclude that the identified mutation in the insulin receptor gene and lead to decreased activity of the downstream signaling of the insulin pathway. Competing Interests: The authors have declared no competing interest. (© 2023 The Authors.)
Databáze:	MEDLINE
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