Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause

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Fältnamn	Indikatorer	Metadata
000		03218naa a2200409 4500
001		oai:lup.lub.lu.se:47e7a74f-db98-4898-9164-37b706cdf9fa
003		SwePub
008		160401s2008 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/12012042 URI
024	7	a https://doi.org/10.1007/s10038-008-0284-02 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Fellman, Vinetau Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)pedi-vfe
245	1 0	a Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
264		c 2008-04-02
264	1	b Springer Science and Business Media LLC,c 2008
520		a The BCS1L gene encodes a chaperone responsible for assembly of respiratory chain complex III (CIII). A homozygous point mutation (232A -> G) has been found as the genetic etiology for fetal growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (GRACILE) syndrome (MIM 603358). Variable phenotypes have been found with other mutations. Our aim was to assess whether 232A -> G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder. A further aim was to confirm the GRACILE genotype-phenotype constancy (n = 8). Three new cases with homozygous 232A -> G mutation were identified; all had the primary GRACILE characteristics. No other mutations were found in the gene in other cases. All infants with GRACILE syndrome had the typical mutation. In conclusion, the rather homogenous population of Finns seems to have a specific BCS1L mutation that, as homozygous state, causes GRACILE syndrome, whereas other mutations are rare or not occurring. Thus, the novel clinical implication of this study is to screen for BCS1L mutations only if CIII is dysfunctioning or lacking Rieske protein, and to assess 232A -> G mutation in cases with GRACILE syndrome.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a respiratory chain complex III
653		a lactic acidosis
653		a fetal growth retardation
653		a encephalopathy
653		a metabolic brain disease
700	1	a Lemmela, Susanna4 aut
700	1	a Sajantila, Antti4 aut
700	1	a Pihko, Helena4 aut
700	1	a Jarvela, Irma4 aut
710	2	a Pediatrik, Lundb Sektion V4 org
773	0	t Journal of Human Geneticsd : Springer Science and Business Media LLCg 53:6, s. 554-558q 53:6<554-558x 1434-5161x 1435-232X
856	4	u http://dx.doi.org/10.1007/s10038-008-0284-0y FULLTEXT
856	4	u https://www.nature.com/articles/jhg200871.pdf
856	4 8	u https://lup.lub.lu.se/record/1201204
856	4 8	u https://doi.org/10.1007/s10038-008-0284-0

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Av författaren/redakt...: Fellman, Vineta; Lemmela, Susanna; Sajantila, Antti; Pihko, Helena; Jarvela, Irma

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Medicinska och f ...; och Medicinsk geneti ...

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Av lärosätet: Lunds universitet

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