Seventeen novel mutations that cause profound biotinidase deficiency

B. Wolf; K. Jensen; G. Hüner; M. Demirkol; T. Baykal; P. Divry; M. O. Rolland; C. Perez-Cerdá; M. Ugarte; R. Straussberg; L. Basel-Vanagaite; E. R. Baumgartner; T. Suormala; S. Scholl; A. M. Das; S. Schweitzer; E. Pronicka; J. Sykut-Cegielska

doi:10.1016/S1096-7192(02)00149-X

Seventeen novel mutations that cause profound biotinidase deficiency

B. Wolf^*, K. Jensen, G. Hüner, M. Demirkol, T. Baykal, P. Divry, M. O. Rolland, C. Perez-Cerdá, M. Ugarte, R. Straussberg, L. Basel-Vanagaite, E. R. Baumgartner, T. Suormala, S. Scholl, A. M. Das, S. Schweitzer, E. Pronicka, J. Sykut-Cegielska

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

Abstract

We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.

Original language	English (US)
Pages (from-to)	108-111
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	77
Issue number	1-2
DOIs	https://doi.org/10.1016/S1096-7192(02)00149-X
State	Published - 2002

Funding

The work was supported in part by the Safra Research Fund (B.W.) at Connecticut Children’s Medical Center and by a General Clinical Research Center Grant to the University of Connecticut Health Center (MO1RR06192) from the National Institutes of Health.

Keywords

Biotinidase
Biotinidase deficiency
Mutation

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/S1096-7192(02)00149-X

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Wolf, B., Jensen, K., Hüner, G., Demirkol, M., Baykal, T., Divry, P., Rolland, M. O., Perez-Cerdá, C., Ugarte, M., Straussberg, R., Basel-Vanagaite, L., Baumgartner, E. R., Suormala, T., Scholl, S., Das, A. M., Schweitzer, S., Pronicka, E., & Sykut-Cegielska, J. (2002). Seventeen novel mutations that cause profound biotinidase deficiency. Molecular Genetics and Metabolism, 77(1-2), 108-111. https://doi.org/10.1016/S1096-7192(02)00149-X

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title = "Seventeen novel mutations that cause profound biotinidase deficiency",

abstract = "We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.",

keywords = "Biotinidase, Biotinidase deficiency, Mutation",

author = "B. Wolf and K. Jensen and G. H{\"u}ner and M. Demirkol and T. Baykal and P. Divry and Rolland, {M. O.} and C. Perez-Cerd{\'a} and M. Ugarte and R. Straussberg and L. Basel-Vanagaite and Baumgartner, {E. R.} and T. Suormala and S. Scholl and Das, {A. M.} and S. Schweitzer and E. Pronicka and J. Sykut-Cegielska",

note = "Funding Information: The work was supported in part by the Safra Research Fund (B.W.) at Connecticut Children{\textquoteright}s Medical Center and by a General Clinical Research Center Grant to the University of Connecticut Health Center (MO1RR06192) from the National Institutes of Health.",

year = "2002",

doi = "10.1016/S1096-7192(02)00149-X",

language = "English (US)",

volume = "77",

pages = "108--111",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

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Wolf, B, Jensen, K, Hüner, G, Demirkol, M, Baykal, T, Divry, P, Rolland, MO, Perez-Cerdá, C, Ugarte, M, Straussberg, R, Basel-Vanagaite, L, Baumgartner, ER, Suormala, T, Scholl, S, Das, AM, Schweitzer, S, Pronicka, E & Sykut-Cegielska, J 2002, 'Seventeen novel mutations that cause profound biotinidase deficiency', Molecular Genetics and Metabolism, vol. 77, no. 1-2, pp. 108-111. https://doi.org/10.1016/S1096-7192(02)00149-X

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T1 - Seventeen novel mutations that cause profound biotinidase deficiency

AU - Wolf, B.

AU - Jensen, K.

AU - Hüner, G.

AU - Demirkol, M.

AU - Baykal, T.

AU - Divry, P.

AU - Rolland, M. O.

AU - Perez-Cerdá, C.

AU - Ugarte, M.

AU - Straussberg, R.

AU - Basel-Vanagaite, L.

AU - Baumgartner, E. R.

AU - Suormala, T.

AU - Scholl, S.

AU - Das, A. M.

AU - Schweitzer, S.

AU - Pronicka, E.

AU - Sykut-Cegielska, J.

N1 - Funding Information: The work was supported in part by the Safra Research Fund (B.W.) at Connecticut Children’s Medical Center and by a General Clinical Research Center Grant to the University of Connecticut Health Center (MO1RR06192) from the National Institutes of Health.

PY - 2002

Y1 - 2002

N2 - We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.

AB - We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.

KW - Biotinidase

KW - Biotinidase deficiency

KW - Mutation

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ER -

Seventeen novel mutations that cause profound biotinidase deficiency

Abstract

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Keywords

ASJC Scopus subject areas

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