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Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

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Ostergaard, Elsebet ; Duno, Morten ; Møller, Lisbeth Birk ; Kalkanoglu-Sivri, H Serap ; Dursun, Ali ; Aliefendioglu, Didem ; Leth, Helle Birgitte ; Dahl, Marianne ; Christensen, Ernst ; Wibrand, Flemming. / Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency. I: JIMD Reports. 2013 ; Bind 9. s. 1-5.

Bibtex

@article{aa4693deeccc4274813f68ee6a5290e4,
title = "Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency",
abstract = "We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a homozygous mutation located in a potential branch point sequence, the first possible branch point mutation in PC. Two patients were homozygous for missense mutations (with normal protein amounts on western blot analysis), and two patients were homozygous for nonsense mutations. In addition, a duplication of one base pair was found in a patient who also harboured a splice site mutation. Another splice site mutation led to the activation of a cryptic splice site, shown by cDNA analysis.All patients reported until now with at least one missense mutation have had the milder type A form of PC deficiency. We thus report for the first time two patients with homozygous missense mutations with the severe type B deficiency, clinically indistinguishable from other patients with type B form of PC deficiency.The mutations found here are novel; it is noteworthy that four Turkish patients did not have any mutations in common, despite the rarity of PC deficiency. There is thus no evidence for recurrent mutations in the Turkish or other populations.",
author = "Elsebet Ostergaard and Morten Duno and M{\o}ller, {Lisbeth Birk} and Kalkanoglu-Sivri, {H Serap} and Ali Dursun and Didem Aliefendioglu and Leth, {Helle Birgitte} and Marianne Dahl and Ernst Christensen and Flemming Wibrand",
year = "2013",
doi = "10.1007/8904_2012_173",
language = "English",
volume = "9",
pages = "1--5",
journal = "JIMD Reports",
issn = "2192-8304",
publisher = "Springer Berlin",

}

RIS

TY - JOUR

T1 - Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

AU - Ostergaard, Elsebet

AU - Duno, Morten

AU - Møller, Lisbeth Birk

AU - Kalkanoglu-Sivri, H Serap

AU - Dursun, Ali

AU - Aliefendioglu, Didem

AU - Leth, Helle Birgitte

AU - Dahl, Marianne

AU - Christensen, Ernst

AU - Wibrand, Flemming

PY - 2013

Y1 - 2013

N2 - We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a homozygous mutation located in a potential branch point sequence, the first possible branch point mutation in PC. Two patients were homozygous for missense mutations (with normal protein amounts on western blot analysis), and two patients were homozygous for nonsense mutations. In addition, a duplication of one base pair was found in a patient who also harboured a splice site mutation. Another splice site mutation led to the activation of a cryptic splice site, shown by cDNA analysis.All patients reported until now with at least one missense mutation have had the milder type A form of PC deficiency. We thus report for the first time two patients with homozygous missense mutations with the severe type B deficiency, clinically indistinguishable from other patients with type B form of PC deficiency.The mutations found here are novel; it is noteworthy that four Turkish patients did not have any mutations in common, despite the rarity of PC deficiency. There is thus no evidence for recurrent mutations in the Turkish or other populations.

AB - We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a homozygous mutation located in a potential branch point sequence, the first possible branch point mutation in PC. Two patients were homozygous for missense mutations (with normal protein amounts on western blot analysis), and two patients were homozygous for nonsense mutations. In addition, a duplication of one base pair was found in a patient who also harboured a splice site mutation. Another splice site mutation led to the activation of a cryptic splice site, shown by cDNA analysis.All patients reported until now with at least one missense mutation have had the milder type A form of PC deficiency. We thus report for the first time two patients with homozygous missense mutations with the severe type B deficiency, clinically indistinguishable from other patients with type B form of PC deficiency.The mutations found here are novel; it is noteworthy that four Turkish patients did not have any mutations in common, despite the rarity of PC deficiency. There is thus no evidence for recurrent mutations in the Turkish or other populations.

U2 - 10.1007/8904_2012_173

DO - 10.1007/8904_2012_173

M3 - Journal article

VL - 9

SP - 1

EP - 5

JO - JIMD Reports

JF - JIMD Reports

SN - 2192-8304

ER -

ID: 38400284