A 36 years old woman with Hutchinson-Gilford Progeria Syndrome: a case report
Background: Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the L...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | fas |
| Published: |
Tehran University of Medical Sciences
2007-10-01
|
| Series: | Tehran University Medical Journal |
| Subjects: | |
| Online Access: | http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/4228.pdf&manuscript_id=4228 |
| Summary: | Background: Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the Lamin A gene exon 11 in the majority of cases. More than 100 cases have been reported world wide."nCase report: We describe here an exceptionally long-lived patient with HGPS, who is alive at age 36. She was referred by a cardiologist to our endocrinology clinic to be worked up for presence of a metabolic or genetic disorder before a heart surgery."nResults: Having more attention of clinicians about very rare diseases and referring the patients to geneticist are the main goals of this case report as well as describing the disease. |
|---|---|
| ISSN: | 1683-1764 1735-7322 |