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Identification of novel mutations in classical galactosemia.
Hum Mutat. 2005 May; 25(5):502.HM

Abstract

Classical galactosemia is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Treatment through restriction of dietary galactose intake is lifesaving, but, in spite of this diet, most patients develop abnormalities. In this paper we report the mutational spectrum of classical galactosemia in a cohort of 123 Dutch patients, all with biochemically proven classical galactosemia. In the human GALT gene, which is located on chromosome 9p13, we identified 24 different mutations, including nine mutations that have not been reported previously. The novel mutations include five missense mutations (c.152G>A/p.R51Q, c.404C>T/p.S135W, c.687G>T/p.K229N, c.756G>T/p.Q252H, and c.1140A>C/p.X380C), a frame shift mutation (c.410dupT), a splice site mutation (c.821-2A>G), a possible branch point mutation (c.508-29delT), and a large deletion encompassing at least exons 1-11. Six of these novel mutations were found in patients of Dutch descent: p.R51Q, p.S135W, p.K229N, p.Q252H, p.X380C, and c.410dupT.

Authors+Show Affiliations

Academic Medical Centre, University of Amsterdam, Emma's Children's Hospital, Amsterdam, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15841485

Citation

Bosch, Annet M., et al. "Identification of Novel Mutations in Classical Galactosemia." Human Mutation, vol. 25, no. 5, 2005, p. 502.
Bosch AM, Ijlst L, Oostheim W, et al. Identification of novel mutations in classical galactosemia. Hum Mutat. 2005;25(5):502.
Bosch, A. M., Ijlst, L., Oostheim, W., Mulders, J., Bakker, H. D., Wijburg, F. A., Wanders, R. J., & Waterham, H. R. (2005). Identification of novel mutations in classical galactosemia. Human Mutation, 25(5), 502.
Bosch AM, et al. Identification of Novel Mutations in Classical Galactosemia. Hum Mutat. 2005;25(5):502. PubMed PMID: 15841485.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of novel mutations in classical galactosemia. AU - Bosch,Annet M, AU - Ijlst,Lodewijk, AU - Oostheim,Wendy, AU - Mulders,Joyce, AU - Bakker,Henk D, AU - Wijburg,Frits A, AU - Wanders,Ronald J A, AU - Waterham,Hans R, PY - 2005/4/21/pubmed PY - 2006/6/6/medline PY - 2005/4/21/entrez SP - 502 EP - 502 JF - Human mutation JO - Hum Mutat VL - 25 IS - 5 N2 - Classical galactosemia is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Treatment through restriction of dietary galactose intake is lifesaving, but, in spite of this diet, most patients develop abnormalities. In this paper we report the mutational spectrum of classical galactosemia in a cohort of 123 Dutch patients, all with biochemically proven classical galactosemia. In the human GALT gene, which is located on chromosome 9p13, we identified 24 different mutations, including nine mutations that have not been reported previously. The novel mutations include five missense mutations (c.152G>A/p.R51Q, c.404C>T/p.S135W, c.687G>T/p.K229N, c.756G>T/p.Q252H, and c.1140A>C/p.X380C), a frame shift mutation (c.410dupT), a splice site mutation (c.821-2A>G), a possible branch point mutation (c.508-29delT), and a large deletion encompassing at least exons 1-11. Six of these novel mutations were found in patients of Dutch descent: p.R51Q, p.S135W, p.K229N, p.Q252H, p.X380C, and c.410dupT. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/15841485/Identification_of_novel_mutations_in_classical_galactosemia_ L2 - https://doi.org/10.1002/humu.9330 DB - PRIME DP - Unbound Medicine ER -