Mol Genet Metab. 2006 Dec;89(4):323-31. Epub 2006 Sep 22.

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.

Source

Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA.

Abstract

The exonic regions of the carnitine palmitoyltransferase 2 (CPT2) gene were characterized from 101 patients with defined clinical and biochemical evidence for the adult onset form of CPT II deficiency and in 2 patients detected as newborns with abnormal acylcarnitine profiles. Twenty-seven disease-causing mutations within the CPT2 gene were identified in this cohort, 16 of which were novel. A total of 60 disease-causing mutations have been identified to date in CPT2 and 41 of these are predicted to produce amino acid substitution/deletions. The implications of these mutations are described in light of recent advances in our understanding of the molecular structure of members of the carnitine acyltransferase family.

PMID:: 16996287; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Carnitine O-Palmitoyltransferase

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. [Mol Genet Metab. 2008]
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. Mol Genet Metab. 2008 Aug; 94(4):422-7. Epub 2008 Jun 11.
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients. [Neurology. 2003]
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.
Wieser T, Deschauer M, Olek K, Hermann T, Zierz S. Neurology. 2003 Apr 22; 60(8):1351-3.
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency. [J Neurol Sci. 2008]
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
Corti S, Bordoni A, Ronchi D, Musumeci O, Aguennouz M, Toscano A, Lamperti C, Bresolin N, Comi GP. J Neurol Sci. 2008 Mar 15; 266(1-2):97-103. Epub 2007 Oct 23.
Review Carnitine palmitoyltransferase deficiencies. [Mol Genet Metab. 1999]
Review Carnitine palmitoyltransferase deficiencies.
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. Mol Genet Metab. 1999 Dec; 68(4):424-40.
Review Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. [Mol Aspects Med. 2004]
Review Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.
Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. Mol Aspects Med. 2004 Oct-Dec; 25(5-6):495-520.

See reviews... See all...

Cited by 1 PubMed Central article

Review Inborn errors of energy metabolism associated with myopathies. [J Biomed Biotechnol. 2010]
Review Inborn errors of energy metabolism associated with myopathies.
Das AM, Steuerwald U, Illsinger S. J Biomed Biotechnol. 2010; 2010:340849. Epub 2010 May 26.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in...
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
Mol Genet Metab. 2006 Dec ;89(4):323-31. Epub 2006 Sep 22 .

PubMed
The tumor-suppressor gene fat controls tissue growth upstream of expanded in the...
The tumor-suppressor gene fat controls tissue growth upstream of expanded in the hippo signaling pathway.
Curr Biol. 2006 Nov 7 ;16(21):2081-9. Epub 2006 Sep 21 .

PubMed
Beta2 adrenergic receptor activation stimulates pro-inflammatory cytokine produc...
Beta2 adrenergic receptor activation stimulates pro-inflammatory cytokine production in macrophages via PKA- and NF-kappaB-independent mechanisms.
Cell Signal. 2007 Feb ;19(2):251-60. Epub 2006 Sep 20 .

PubMed
BRCA1 and TP53 mutation spectrum of breast carcinoma in an ethnic population of ...
BRCA1 and TP53 mutation spectrum of breast carcinoma in an ethnic population of Kashmir, an emerging high-risk area.
Cancer Lett. 2007 Apr 18 ;248(2):308-20. Epub 2006 Sep 22 .

PubMed
The development of folate-PAMAM dendrimer conjugates for targeted delivery of an...
The development of folate-PAMAM dendrimer conjugates for targeted delivery of anti-arthritic drugs and their pharmacokinetics and biodistribution in arthritic rats.
Biomaterials. 2007 Jan ;28(3):504-12. Epub 2006 Sep 22 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: