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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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. 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.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/jhg.2017.90</identifier><identifier>PMID: 28878338</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>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</subject><ispartof>Journal of human genetics, 2017-12, Vol.62 (12), p.1031-1035</ispartof><rights>Copyright Nature Publishing Group Dec 2017</rights><rights>The Japan Society of Human Genetics 2017.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c369t-12b6fd372fcbb6f7401094a99347a18b44ba9da3bdcb5fa98d89594e1f3476a03</citedby><cites>FETCH-LOGICAL-c369t-12b6fd372fcbb6f7401094a99347a18b44ba9da3bdcb5fa98d89594e1f3476a03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27915,27916</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28878338$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sato-Kawano, Nanae</creatorcontrib><creatorcontrib>Takemoto, Minoru</creatorcontrib><creatorcontrib>Okabe, Emiko</creatorcontrib><creatorcontrib>Yokote, Koutaro</creatorcontrib><creatorcontrib>Matsuo, Muneaki</creatorcontrib><creatorcontrib>Kosaki, Rika</creatorcontrib><creatorcontrib>Ihara, Kenji</creatorcontrib><title>The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><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.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Adolescent</subject><subject>Age</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Cardiovascular disease</subject><subject>Cardiovascular Diseases - complications</subject><subject>Cardiovascular Diseases - diagnosis</subject><subject>Cardiovascular Diseases - genetics</subject><subject>Cerebral ischemic disease</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Clinical trials</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Genetic disorders</subject><subject>Genetics</subject><subject>Genotype & phenotype</subject><subject>Hair</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Hypertension</subject><subject>Ischemia</subject><subject>Japan</subject><subject>Literature reviews</subject><subject>Male</subject><subject>Medical prognosis</subject><subject>Medicine</subject><subject>Mutation</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Progeria</subject><subject>Progeria - complications</subject><subject>Progeria - diagnosis</subject><subject>Progeria - genetics</subject><subject>Questionnaires</subject><subject>Scalp</subject><subject>Skin</subject><subject>Skin Diseases - complications</subject><subject>Skin Diseases - diagnosis</subject><subject>Skin Diseases - genetics</subject><subject>Surveys and Questionnaires</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kc9LwzAYhoMobk5P3iXgRZDO_GqaHMfQKQy8TPAW0jRdM7p2Jimy_97WTQ8ePH3v4fleXngAuMZoihEVD5tqPSUIZ1OJTsAYM5omhJL30-_MkhRzPAIXIWwQQpRk5ByMiBCZoFSMwXpVWWhq1zija2gq7bWJ1rsQnQmwLeEsON3AnY7ONjHATxerntchDA9J3O8sfO6iqVwT2iZZuLpsfQF3vl33LRqGfVP4dmsvwVmp62CvjncC3p4eV_PnZPm6eJnPlomhXMYEk5yXBc1IafI-ZQxhJJmWkrJMY5EzlmtZaJoXJk9LLUUhZCqZxWUPcI3oBNwdevsFH50NUW1dMLaudWPbLigsKeeEYMF69PYPumk73_TrFOE4TSkiIv2PwpILhjhKB-r-QBnfhuBtqXbebbXfK4zUYEn1ltRgSclh5M2xs8u3tvhlf7TQLxprjYI</recordid><startdate>20171201</startdate><enddate>20171201</enddate><creator>Sato-Kawano, Nanae</creator><creator>Takemoto, Minoru</creator><creator>Okabe, Emiko</creator><creator>Yokote, Koutaro</creator><creator>Matsuo, Muneaki</creator><creator>Kosaki, Rika</creator><creator>Ihara, Kenji</creator><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20171201</creationdate><title>The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome</title><author>Sato-Kawano, Nanae ; Takemoto, Minoru ; Okabe, Emiko ; Yokote, Koutaro ; Matsuo, Muneaki ; Kosaki, Rika ; Ihara, Kenji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c369t-12b6fd372fcbb6f7401094a99347a18b44ba9da3bdcb5fa98d89594e1f3476a03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Adolescent</topic><topic>Age</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Cardiovascular disease</topic><topic>Cardiovascular Diseases - complications</topic><topic>Cardiovascular Diseases - diagnosis</topic><topic>Cardiovascular Diseases - genetics</topic><topic>Cerebral ischemic disease</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Clinical trials</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Genetic disorders</topic><topic>Genetics</topic><topic>Genotype & phenotype</topic><topic>Hair</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Hypertension</topic><topic>Ischemia</topic><topic>Japan</topic><topic>Literature reviews</topic><topic>Male</topic><topic>Medical prognosis</topic><topic>Medicine</topic><topic>Mutation</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Progeria</topic><topic>Progeria - 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Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sato-Kawano, Nanae</au><au>Takemoto, Minoru</au><au>Okabe, Emiko</au><au>Yokote, Koutaro</au><au>Matsuo, Muneaki</au><au>Kosaki, Rika</au><au>Ihara, Kenji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2017-12-01</date><risdate>2017</risdate><volume>62</volume><issue>12</issue><spage>1031</spage><epage>1035</epage><pages>1031-1035</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>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.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>28878338</pmid><doi>10.1038/jhg.2017.90</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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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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