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Article: Glucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a

TitleGlucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a
Authors
Issue Date1998
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 1998, v. 53 n. 3, p. 184-190 How to Cite?
AbstractGlycogen storage disease type 1a (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). We analyzed the G6Pase genes of two unrelated Chinese families with GSD1a. DNA sequencing of all five exons and the exon-intron boundaries revealed a G→T transversion at nucleotide 727 (727G→T) in exon 5, which has previously been reported to cause abnormal splicing. In one family, the subject and her affected sister were confirmed to be homozygous for this mutation and their parents to be heterozygotes. In the other family, the proband was identified to be heterozygous for this mutation, and a novel mutation, the 341delG in exon 2, was identified. This mutation alters the reading frame and creates a stop codon TAA 15 codons downstream from the mutation, resulting in a truncated protein. Family studies revealed that the father was heterozygous for the 727G→T mutation and that the mother was heterozygous for the 341delG mutation. This is the first time that the 727G→T mutation has been found in Chinese patients or outside Japan. Since we only tested two GSD1a families and found 727G→T in both, we believe that this mutation may also be prevalent in our local Chinese population. To investigate allele frequencies, we screened 385 Chinese healthy volunteers and found two asymptomatic carriers. Our findings suggest that the 727G→T mutation is indeed prevalent in Hong Kong.
Persistent Identifierhttp://hdl.handle.net/10722/148122
ISSN
2015 Impact Factor: 3.892
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorBut, WMen_US
dc.contributor.authorShek, CCen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorChan, YSen_US
dc.contributor.authorChoy, KWen_US
dc.contributor.authorTse, WYen_US
dc.contributor.authorPang, CPen_US
dc.contributor.authorHjelm, NMen_US
dc.date.accessioned2012-05-29T06:10:59Z-
dc.date.available2012-05-29T06:10:59Z-
dc.date.issued1998en_US
dc.identifier.citationClinical Genetics, 1998, v. 53 n. 3, p. 184-190en_US
dc.identifier.issn0009-9163en_US
dc.identifier.urihttp://hdl.handle.net/10722/148122-
dc.description.abstractGlycogen storage disease type 1a (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). We analyzed the G6Pase genes of two unrelated Chinese families with GSD1a. DNA sequencing of all five exons and the exon-intron boundaries revealed a G→T transversion at nucleotide 727 (727G→T) in exon 5, which has previously been reported to cause abnormal splicing. In one family, the subject and her affected sister were confirmed to be homozygous for this mutation and their parents to be heterozygotes. In the other family, the proband was identified to be heterozygous for this mutation, and a novel mutation, the 341delG in exon 2, was identified. This mutation alters the reading frame and creates a stop codon TAA 15 codons downstream from the mutation, resulting in a truncated protein. Family studies revealed that the father was heterozygous for the 727G→T mutation and that the mother was heterozygous for the 341delG mutation. This is the first time that the 727G→T mutation has been found in Chinese patients or outside Japan. Since we only tested two GSD1a families and found 727G→T in both, we believe that this mutation may also be prevalent in our local Chinese population. To investigate allele frequencies, we screened 385 Chinese healthy volunteers and found two asymptomatic carriers. Our findings suggest that the 727G→T mutation is indeed prevalent in Hong Kong.en_US
dc.languageengen_US
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_US
dc.relation.ispartofClinical Geneticsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGlucose-6-Phosphatase - Geneticsen_US
dc.subject.meshGlycogen Storage Disease Type I - Epidemiology - Ethnology - Geneticsen_US
dc.subject.meshHeterozygote Detectionen_US
dc.subject.meshHomozygoteen_US
dc.subject.meshHong Kong - Epidemiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Epidemiologyen_US
dc.subject.meshMutationen_US
dc.subject.meshPedigreeen_US
dc.subject.meshRna Splicingen_US
dc.titleGlucose-6-phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1aen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid9630072-
dc.identifier.scopuseid_2-s2.0-0031953729en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031953729&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume53en_US
dc.identifier.issue3en_US
dc.identifier.spage184en_US
dc.identifier.epage190en_US
dc.identifier.isiWOS:000073446200006-
dc.publisher.placeDenmarken_US

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