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Article: Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II

TitleRole of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
Authors
Issue Date2010
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Citation
Diagnostic Molecular Pathology, 2010, v. 19 n. 3, p. 184-186 How to Cite?
AbstractGlutaric aciduria type II, or multiple acyl-CoA dehydrogenase deficiency, is a rare metabolic disorder inherited in an autosomal recessive manner. The condition can be caused by mutations in at least 3 genes, including ETFA, ETFB, and ETFDH. When this potentially lethal disorder is known for its clinical and biochemical heterogeneity, mutation analysis will be an invaluable part of diagnosis. We here described a Chinese adolescent boy who enjoyed good health earlier and presented at the age of 14 years with severe vomiting. His condition deteriorated rapidly and he succumbed shortly after. With a travel history before presentation and the late age of onset, diagnosis was particularly difficult. Findings in perimortem biochemical investigations and postmortem autopsy were guiding but not diagnostic. The diagnosis of glutaric aciduria type II was finally confirmed by mutation analysis performed by direct sequencing on genomic DNA from peripheral blood, which identified 2 different unreported missense mutations, c.502G>T (p.V168F) and c.786A>G (p.Q262R), in ETFA. The father and the mother were found to be heterozygous for the 2 mutations in ETFA respectively. Subsequent molecular family screening also ruled out the disease in his elder sister, who had a history of convulsion and a suspicious plasma acylcarnitine profile, and freed her from life-long supplementation. The case showed that molecular autopsies should be part of routine postmortem examination of unexplained sudden death in all age groups and DNA-friendly samples should be routinely collected and archived. In the era of personalized medicine with the power of modern genetics, molecular diagnosis should be obtained for heterogeneous diseases with different genetic defects but sharing similar clinical and/or biochemical phenotypes. © 2010 by Lippincott Williams & Wilkins.
Persistent Identifierhttp://hdl.handle.net/10722/126718
ISSN
2015 Impact Factor: 1.474
2015 SCImago Journal Rankings: 0.887
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLee, HCHen_HK
dc.contributor.authorLai, CKen_HK
dc.contributor.authorSiu, TSen_HK
dc.contributor.authorYuen, YPen_HK
dc.contributor.authorChan, KYen_HK
dc.contributor.authorChan, AYWen_HK
dc.contributor.authorTam, Sen_HK
dc.contributor.authorMak, CMen_HK
dc.contributor.authorLam, CWen_HK
dc.date.accessioned2010-10-31T12:44:28Z-
dc.date.available2010-10-31T12:44:28Z-
dc.date.issued2010en_HK
dc.identifier.citationDiagnostic Molecular Pathology, 2010, v. 19 n. 3, p. 184-186en_HK
dc.identifier.issn1052-9551en_HK
dc.identifier.urihttp://hdl.handle.net/10722/126718-
dc.description.abstractGlutaric aciduria type II, or multiple acyl-CoA dehydrogenase deficiency, is a rare metabolic disorder inherited in an autosomal recessive manner. The condition can be caused by mutations in at least 3 genes, including ETFA, ETFB, and ETFDH. When this potentially lethal disorder is known for its clinical and biochemical heterogeneity, mutation analysis will be an invaluable part of diagnosis. We here described a Chinese adolescent boy who enjoyed good health earlier and presented at the age of 14 years with severe vomiting. His condition deteriorated rapidly and he succumbed shortly after. With a travel history before presentation and the late age of onset, diagnosis was particularly difficult. Findings in perimortem biochemical investigations and postmortem autopsy were guiding but not diagnostic. The diagnosis of glutaric aciduria type II was finally confirmed by mutation analysis performed by direct sequencing on genomic DNA from peripheral blood, which identified 2 different unreported missense mutations, c.502G>T (p.V168F) and c.786A>G (p.Q262R), in ETFA. The father and the mother were found to be heterozygous for the 2 mutations in ETFA respectively. Subsequent molecular family screening also ruled out the disease in his elder sister, who had a history of convulsion and a suspicious plasma acylcarnitine profile, and freed her from life-long supplementation. The case showed that molecular autopsies should be part of routine postmortem examination of unexplained sudden death in all age groups and DNA-friendly samples should be routinely collected and archived. In the era of personalized medicine with the power of modern genetics, molecular diagnosis should be obtained for heterogeneous diseases with different genetic defects but sharing similar clinical and/or biochemical phenotypes. © 2010 by Lippincott Williams & Wilkins.en_HK
dc.languageengen_HK
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.comen_HK
dc.relation.ispartofDiagnostic Molecular Pathologyen_HK
dc.subject.meshAdolescenten_HK
dc.subject.meshAsian Continental Ancestry Groupen_HK
dc.subject.meshChinaen_HK
dc.subject.meshDiagnosisen_HK
dc.subject.meshFatal Outcomeen_HK
dc.subject.meshGenetic Testingen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMultiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis - pathologyen_HK
dc.subject.meshPathology, Molecular - methodsen_HK
dc.titleRole of postmortem genetic testing demonstrated in a case of glutaric aciduria type IIen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1052-9551&volume=19&issue=3&spage=184&epage=6&date=2010&atitle=Role+of+Postmortem+Genetic+Testing+Demonstrated+in+a+Case+of+Glutaric+Aciduria+Type+IIen_HK
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1097/PDM.0b013e3181c9a8a8en_HK
dc.identifier.pmid20736750-
dc.identifier.scopuseid_2-s2.0-77956254729en_HK
dc.identifier.hkuros179012en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77956254729&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume19en_HK
dc.identifier.issue3en_HK
dc.identifier.spage184en_HK
dc.identifier.epage186en_HK
dc.identifier.isiWOS:000281308500009-
dc.publisher.placeUnited Statesen_HK

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