A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type la and normal serum calcium and phosphate levels

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dc.contributor.authorAntunes Reis, Mariana Tenorio
dc.contributor.authorCattani, Andreina
dc.contributor.authorMendonca, Berenice Bilharinho
dc.contributor.authorSilveira Correa, Pedro Henrique
dc.contributor.authorMartin, Regina Matsunaga
dc.date.accessioned2024-01-10T12:37:35Z
dc.date.available2024-01-10T12:37:35Z
dc.date.issued2010
dc.description.abstractThe objective of this study was to describe a new mutation in GNAS in a family with pseudohypoparathyroidism type la (PHP la), a rare osteometabolic disease. An 8-month-old boy was seen by an Endocrinologist due to obesity and low growth velocity. Noteworthy, his mother exhibited typical Albright hereditary osteodystrophy (AHO) phenotype. The clinical diagnosis of PHP la was suspected. The GNAS coding region from mother and son was amplified and directly sequenced. A novel heterozygous missense mutation (c.673T>C) was identified in exon 5 in both patients. In this family, the mother's clinical picture was the clue for the son's diagnosis. Molecular analysis of GNAS confirmed the diagnosis of PHP la in both patients and the child's early diagnosis was possible. Moreover, this novel missense substitution expands the spectrum of GNAS mutations associated with this disorder and allows for genetic counseling of this family. Arq Bras Endocrinol Metab. 2010;54(8):728-31
dc.format.extent4 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1590/S0004-27302010000800011
dc.identifier.eissn1677-9487
dc.identifier.issn0004-2730
dc.identifier.pubmedidMEDLINE:21340160
dc.identifier.urihttps://doi.org/10.1590/S0004-27302010000800011
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/76881
dc.identifier.wosidWOS:000286690400011
dc.information.autorucMedicina;Cattani A ;S/I;99178
dc.issue.numero8
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final731
dc.pagina.inicio728
dc.publisherSBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
dc.revistaARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA
dc.rightsregistro bibliográfico
dc.subjectALBRIGHT HEREDITARY OSTEODYSTROPHY
dc.subjectMOLECULAR ANALYSIS
dc.subjectGENE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleA novel GNAS mutation in an infant boy with pseudohypoparathyroidism type la and normal serum calcium and phosphate levels
dc.typeartículo
dc.volumen54
sipa.codpersvinculados99178
sipa.indexWOS
sipa.indexScielo
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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