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Article: Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

TitleFrequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
Authors
KeywordsAdult-onset type II citrullinemia (CTLN2)
Aspartate-glutamate carrier (AGC)
Carrier frequency
Citrin
D7S1812
SLC25A13
Issue Date2005
PublisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htm
Citation
Journal Of Human Genetics, 2005, v. 50 n. 7, p. 338-346 How to Cite?
AbstractDeficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851-854del and 1638-1660dup were found in all Asian countries tested, and 851-854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles. © The Japan Society of Human Genetics and Springer-Verlag 2005.
Persistent Identifierhttp://hdl.handle.net/10722/44394
ISSN
2015 Impact Factor: 2.487
2015 SCImago Journal Rankings: 1.416
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLu, YBen_HK
dc.contributor.authorKobayashi, Ken_HK
dc.contributor.authorUshikai, Men_HK
dc.contributor.authorTabata, Aen_HK
dc.contributor.authorIijima, Men_HK
dc.contributor.authorLi, MXen_HK
dc.contributor.authorLei, Len_HK
dc.contributor.authorKawabe, Ken_HK
dc.contributor.authorTaura, Sen_HK
dc.contributor.authorYang, Yen_HK
dc.contributor.authorLiu, TTen_HK
dc.contributor.authorChiang, SHen_HK
dc.contributor.authorHsiao, KJen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorLee, DHen_HK
dc.contributor.authorSaheki, Ten_HK
dc.date.accessioned2007-09-12T03:52:41Z-
dc.date.available2007-09-12T03:52:41Z-
dc.date.issued2005en_HK
dc.identifier.citationJournal Of Human Genetics, 2005, v. 50 n. 7, p. 338-346en_HK
dc.identifier.issn1434-5161en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44394-
dc.description.abstractDeficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851-854del and 1638-1660dup were found in all Asian countries tested, and 851-854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles. © The Japan Society of Human Genetics and Springer-Verlag 2005.en_HK
dc.languageengen_HK
dc.publisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/10038/index.htmen_HK
dc.relation.ispartofJournal of Human Geneticsen_HK
dc.rightsThe original publication is available at www.springerlink.comen_HK
dc.subjectAdult-onset type II citrullinemia (CTLN2)en_HK
dc.subjectAspartate-glutamate carrier (AGC)en_HK
dc.subjectCarrier frequencyen_HK
dc.subjectCitrinen_HK
dc.subjectD7S1812en_HK
dc.subjectSLC25A13en_HK
dc.subject.meshAdult-onset type ii citrullinemia (ctln2)en_HK
dc.subject.meshAspartate-glutamate carrier (agc)en_HK
dc.subject.meshCitrinen_HK
dc.subject.meshCarrier frequencyen_HK
dc.subject.meshSlc25a13en_HK
dc.titleFrequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiencyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1434-5161&volume=50&issue=7&spage=338&epage=346&date=2005&atitle=Frequency+and+distribution+in+East+Asia+of+12+mutations+identified+in+the+SLC25A13+gene+of+Japanese+patients+with+citrin+deficiencyen_HK
dc.identifier.emailLau, YL: lauylung@hku.hken_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1007/s10038-005-0262-8en_HK
dc.identifier.pmid16059747-
dc.identifier.scopuseid_2-s2.0-23944517760en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-23944517760&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume50en_HK
dc.identifier.issue7en_HK
dc.identifier.spage338en_HK
dc.identifier.epage346en_HK
dc.identifier.isiWOS:000231421800003-
dc.publisher.placeJapanen_HK
dc.identifier.scopusauthoridLu, YB=8748289800en_HK
dc.identifier.scopusauthoridKobayashi, K=7407127141en_HK
dc.identifier.scopusauthoridUshikai, M=9734292400en_HK
dc.identifier.scopusauthoridTabata, A=7006024648en_HK
dc.identifier.scopusauthoridIijima, M=7201773787en_HK
dc.identifier.scopusauthoridLi, MX=37069508900en_HK
dc.identifier.scopusauthoridLei, L=36991307600en_HK
dc.identifier.scopusauthoridKawabe, K=7103037350en_HK
dc.identifier.scopusauthoridTaura, S=6603862285en_HK
dc.identifier.scopusauthoridYang, Y=8932590000en_HK
dc.identifier.scopusauthoridLiu, TT=8719753000en_HK
dc.identifier.scopusauthoridChiang, SH=7201472129en_HK
dc.identifier.scopusauthoridHsiao, KJ=7101919904en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridLee, DH=36067698000en_HK
dc.identifier.scopusauthoridSaheki, T=7005678417en_HK

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