Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism

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dc.contributor.authorCarrasco, CA
dc.contributor.authorGonzalez, AA
dc.contributor.authorCarvajal, CA
dc.contributor.authorCampusano, C
dc.contributor.authorOestreicher, E
dc.contributor.authorArteaga, E
dc.contributor.authorWohllk, N
dc.contributor.authorFardella, CE
dc.date.accessioned2024-01-10T13:51:13Z
dc.date.available2024-01-10T13:51:13Z
dc.date.issued2004
dc.description.abstractPrimary hyperparathyroidism may occur as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism-jaw tumor syndrome, and the familial isolated hyperparathyroidism (FIHP). It is unclear whether FIHP corresponds to a different genetic entity or a variant of MEN1 ( or hyperparathyroidism-jaw tumor syndrome). We report a patient and 11 family members with FIHP in whom we identified a heterozygous G-to-A mutation at nucleotide 7361 of tumor suppressor MEN1 gene. This mutation is located in the first base of intron 9 (IVS9 + 1 G>A). All the family members with hyperparathyroidism were heterozygous for the intronic mutation. In vitro studies were performed in COS cells transfected with minigenes carrying the coding regions spanning exon-intron 9 and 10 with the mutant and the wild-type sequences. RT-PCR analyses showed an abnormal mRNA of greater size ( 829 bp) in the mutated MEN1 gene than the normal transcript ( 629 bp). The longer PCR product includes the exon 9, the unspliced intron 9, and part of exon 10. RT-PCR of MEN1 mRNA from patient's blood confirmed the existence of unspliced intron 9 in mature mRNA. In summary, we report a case of FIHP associated with a new intronic heterozygous germline mutation (IVS9 + 1 G> A) of MEN1 gene. This mutation produces an aberrant splicing of mRNA that could lead to a truncated protein, without activity, explaining the clinical picture of this patient and his family.
dc.fechaingreso.objetodigital2024-05-15
dc.format.extent6 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1210/jc.2003-032101
dc.identifier.issn0021-972X
dc.identifier.pubmedidMEDLINE:15292357
dc.identifier.urihttps://doi.org/10.1210/jc.2003-032101
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79586
dc.identifier.wosidWOS:000223072400079
dc.information.autorucMedicina;Arteaga E;S/I;98586
dc.information.autorucMedicina;Campusano C;S/I;75485
dc.information.autorucMedicina;Carvajal C;S/I;8586
dc.information.autorucMedicina;Fardella C;S/I;66235
dc.issue.numero8
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final4129
dc.pagina.inicio4124
dc.publisherENDOCRINE SOC
dc.revistaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
dc.rightsacceso restringido
dc.subjectENDOCRINE NEOPLASIA TYPE-1
dc.subjectGERMLINE MUTATION
dc.subjectJAPANESE
dc.subjectLOCUS
dc.subjectAPOPTOSIS
dc.subjectKINDREDS
dc.subjectADENOMA
dc.subjectSUBSET
dc.subjectJUND
dc.subjectLINE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleNovel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism
dc.typeartículo
dc.volumen89
sipa.codpersvinculados98586
sipa.codpersvinculados75485
sipa.codpersvinculados8586
sipa.codpersvinculados66235
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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