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Article: De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

TitleDe novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
Authors
Issue Date2001
PublisherBlackwell Publishing Asia. The Journal's web site is located at http://www.blackwellpublishing.com/journals/JPC
Citation
Journal Of Paediatrics And Child Health, 2001, v. 37 n. 1, p. 87-90 How to Cite?
AbstractA 14-year-old Chinese boy with a normal perinatal and early developmental history presented at 5 years of age with migraine, intractable epilepsy, ataxia, supraventricular tachycardia, paralytic ileus and progressive mental deterioration. Computerized tomography revealed multiple cerebral infarcts in the parieto-occipital region without basal ganglial calcification. Magnetic resonance imaging showed increased signal intensity in T2 weighted images in the same regions. A cerebral digital subtraction angiogram was normal. Venous lactate, pyruvate, lactate to pyruvate ratio and cerebrospinal fluid lactate were elevated. Muscle biopsy did not reveal any ragged red fibres; dinucleotide-tetrazolium reductase activity was normal. Mitochondrial DNA analysis detected an adenine to guanine mutation at nucleotide position 3243 of tRNALeu(UUR). All four tissues analysed demonstrated heteroplasmy: leucocyte 56%, hair follicle 70%; buccal cell 64%; muscle 54%. The mother and brother of the proband, both asymptomatic, were also found to have a heteroplasmic A3243G mutation in the leucocytes, hair follicle and buccal cells. Other members of the maternal lineage, including the maternal grandmother, did not have the mutation. This report describes a patient with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, who presented with multisystem involvement. The absence of ragged red fibres in muscle biopsy did not preclude the diagnosis. Mutational analysis of mitochodrial DNA conveniently confirmed the diagnosis of the disorder. A de novo mutaton is demonstrated in this family.
Persistent Identifierhttp://hdl.handle.net/10722/148236
ISSN
2015 Impact Factor: 1.477
2015 SCImago Journal Rankings: 0.692
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKo, Chen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorTse, PWTen_US
dc.contributor.authorKong, CKen_US
dc.contributor.authorChan, AKHen_US
dc.contributor.authorWong, LJCen_US
dc.date.accessioned2012-05-29T06:11:42Z-
dc.date.available2012-05-29T06:11:42Z-
dc.date.issued2001en_US
dc.identifier.citationJournal Of Paediatrics And Child Health, 2001, v. 37 n. 1, p. 87-90en_US
dc.identifier.issn1034-4810en_US
dc.identifier.urihttp://hdl.handle.net/10722/148236-
dc.description.abstractA 14-year-old Chinese boy with a normal perinatal and early developmental history presented at 5 years of age with migraine, intractable epilepsy, ataxia, supraventricular tachycardia, paralytic ileus and progressive mental deterioration. Computerized tomography revealed multiple cerebral infarcts in the parieto-occipital region without basal ganglial calcification. Magnetic resonance imaging showed increased signal intensity in T2 weighted images in the same regions. A cerebral digital subtraction angiogram was normal. Venous lactate, pyruvate, lactate to pyruvate ratio and cerebrospinal fluid lactate were elevated. Muscle biopsy did not reveal any ragged red fibres; dinucleotide-tetrazolium reductase activity was normal. Mitochondrial DNA analysis detected an adenine to guanine mutation at nucleotide position 3243 of tRNALeu(UUR). All four tissues analysed demonstrated heteroplasmy: leucocyte 56%, hair follicle 70%; buccal cell 64%; muscle 54%. The mother and brother of the proband, both asymptomatic, were also found to have a heteroplasmic A3243G mutation in the leucocytes, hair follicle and buccal cells. Other members of the maternal lineage, including the maternal grandmother, did not have the mutation. This report describes a patient with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, who presented with multisystem involvement. The absence of ragged red fibres in muscle biopsy did not preclude the diagnosis. Mutational analysis of mitochodrial DNA conveniently confirmed the diagnosis of the disorder. A de novo mutaton is demonstrated in this family.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Asia. The Journal's web site is located at http://www.blackwellpublishing.com/journals/JPCen_US
dc.relation.ispartofJournal of Paediatrics and Child Healthen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMelas Syndrome - Genetics - Pathologyen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshRna - Analysisen_US
dc.subject.meshTomography, X-Ray Computeden_US
dc.titleDe novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspringen_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.doi10.1046/j.1440-1754.2001.00611.xen_US
dc.identifier.pmid11168879-
dc.identifier.scopuseid_2-s2.0-0035116323en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035116323&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume37en_US
dc.identifier.issue1en_US
dc.identifier.spage87en_US
dc.identifier.epage90en_US
dc.identifier.isiWOS:000167677700021-
dc.publisher.placeAustraliaen_US

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