The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that shows a characteristic progeria phenotype. We conducted a questionnaire survey of 1173 tertiary hospitals in Japan and reviewed the academic reports, to identify the characteristics of Asian patients with classica...

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Veröffentlicht in:Journal of human genetics 2017-12, Vol.62 (12), p.1031-1035
Hauptverfasser: Sato-Kawano, Nanae, Takemoto, Minoru, Okabe, Emiko, Yokote, Koutaro, Matsuo, Muneaki, Kosaki, Rika, Ihara, Kenji
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container_end_page 1035
container_issue 12
container_start_page 1031
container_title Journal of human genetics
container_volume 62
creator Sato-Kawano, Nanae
Takemoto, Minoru
Okabe, Emiko
Yokote, Koutaro
Matsuo, Muneaki
Kosaki, Rika
Ihara, Kenji
description Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that shows a characteristic progeria phenotype. We conducted a questionnaire survey of 1173 tertiary hospitals in Japan and reviewed the academic reports, to identify the characteristics of Asian patients with classical HGPS. As a result, four Japanese patients were identified; this was estimated to account for approximately two-third of the prevalence in Japan. Three Asian patients who had definitively been diagnosed with classical HGPS were identified in the literature; in total, the clinical characteristics of seven patients were evaluated. Most of the clinical phenotypes of Asian patients were essentially similar to those of patients of other ethnicities, such as sclerodermatous skin, growth failure, loss of scalp hair or severe complications of cardiovascular and cerebral ischemic disease. In conclusion, to circumvent or minimalize severe vascular complication, an early diagnosis, careful observation and, promisingly, new intervention with farnesylation inhibitors may improve the prognosis of classical HGPS patients.
doi_str_mv 10.1038/jhg.2017.90
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We conducted a questionnaire survey of 1173 tertiary hospitals in Japan and reviewed the academic reports, to identify the characteristics of Asian patients with classical HGPS. As a result, four Japanese patients were identified; this was estimated to account for approximately two-third of the prevalence in Japan. Three Asian patients who had definitively been diagnosed with classical HGPS were identified in the literature; in total, the clinical characteristics of seven patients were evaluated. Most of the clinical phenotypes of Asian patients were essentially similar to those of patients of other ethnicities, such as sclerodermatous skin, growth failure, loss of scalp hair or severe complications of cardiovascular and cerebral ischemic disease. 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subjects Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adolescent
Age
Asian Continental Ancestry Group - genetics
Cardiovascular disease
Cardiovascular Diseases - complications
Cardiovascular Diseases - diagnosis
Cardiovascular Diseases - genetics
Cerebral ischemic disease
Child
Child, Preschool
Clinical trials
Fatal Outcome
Female
Genetic disorders
Genetics
Genotype & phenotype
Hair
Hospitals
Humans
Hypertension
Ischemia
Japan
Literature reviews
Male
Medical prognosis
Medicine
Mutation
Patients
Pediatrics
Phenotype
Phenotypes
Progeria
Progeria - complications
Progeria - diagnosis
Progeria - genetics
Questionnaires
Scalp
Skin
Skin Diseases - complications
Skin Diseases - diagnosis
Skin Diseases - genetics
Surveys and Questionnaires
title The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome
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