A novel exonic GHR mutataion c 784G C in a patient with classical growth hormone insensitivity syndrome

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dc.authorid10983en_US
dc.contributor.authorAkıncı, Ayşehan
dc.date.accessioned2017-07-10T11:45:37Z
dc.date.available2017-07-10T11:45:37Z
dc.date.issued2013
dc.departmentİnönü Üniversitesien_US
dc.descriptionHormon Reseach Paediatren_US
dc.description.abstractContext: Undetectable circulating growth hormone-binding protein (GHBP) can be indicative of a GH receptor (GHR) defect and cause GH insensitivity (GHI) syndrome. Case Report: The proband, severely growth retarded from birth, had a height of 73 cm (–6 SDS) and weight of 10.5 kg (–2.5 SDS) at the age of 3.25 years; her consanguineous parents were normal statured. Basal serum GH measurement was high, >40 ng/ml, while serum insulin-like growth factor-I (IGF-I; 8.5 ng/ml; normal, 13–100), IGF-binding protein 3 (126 ng/ml; normal, 365–1,294), acid labile subunit (0.59 mg/l; normal, 5.6–16), and GHBP (120 pmol/l; normal, 431–1,892) concentrations were all markedly low. Recombinant IGF-I therapy improved height to –4.4 SDS after 2.5 years of treatment. Results:GHR gene analysis revealed a homozygous c.784G>C transversion, the last nucleotide of exon 7; the parents were heterozygous for the mutation. Evaluation of GHR mRNA indicated c.784G>C was not a missense mutation but induced exon 7 excision, leading to a frame shift and predicted early protein termination. Conclusion: A novel homozygous GHRc.784G>C mutation, identified in a GHI patient, induced functional loss of the native intron 7 donor splice site, demonstrating, for the first time, the importance of exonic nucleotides at exon-intron junctions for normal GHR splicing.en_US
dc.identifier.citationAKINCI, A., RON, R., & HWA, V. (2013). A novel exonic GHR mutataion c 784G C in a patient with classical growth hormone insensitivity syndrome . Hormon Reseach Paediatr, 79(1), 32–38.en_US
dc.identifier.doi10.1159/000341527en_US
dc.identifier.endpage38en_US
dc.identifier.issue1en_US
dc.identifier.startpage32en_US
dc.identifier.urihttps://www.karger.com/Article/Abstract/341527
dc.identifier.urihttps://hdl.handle.net/11616/7364
dc.identifier.volume79en_US
dc.language.isoenen_US
dc.publisherHormon Reseach Paediatren_US
dc.relation.ispartofHormon Reseach Paediatren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectExon-intron junctionsen_US
dc.titleA novel exonic GHR mutataion c 784G C in a patient with classical growth hormone insensitivity syndromeen_US
dc.typeArticleen_US

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