| Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. | |
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MedLine Citation:
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PMID: 20574985 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Systemic primary carnitine deficiency (CDSP) is caused by recessive mutations in the SLC22A5 (OCTN2) gene encoding the plasmalemmal carnitine transporter and characterized by hypoketotic hypoglycemia, and skeletal and cardiac myopathy. The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having CDSP. In 70 unrelated infants evaluated because of abnormal newborn screening (NBS) results, 48 were found to have at least 1 mutation/unclassified missense variant. Twenty-eight of 33 mothers whose infants had abnormal NBS results were found to carry at least 1 mutation/unclassified missense variant, including 11 asymptomatic mothers who had 2 mutations. Therefore, sequencing of the OCTN2 gene is recommended for infants with abnormal NBS results and for their mothers. Conversely, 52 unrelated subjects were tested due to clinical indications other than abnormal NBS and only 14 of them were found to have at least one mutation/unclassified variant. Custom designed oligonucleotide array CGH analysis revealed a heterozygous approximately 1.6 Mb deletion encompassing the entire OCTN2 gene in one subject who was apparently homozygous for the c.680G>A (p.R227H) mutation. Thus, copy number abnormalities at the OCTN2 locus should be considered if by sequencing, an apparently homozygous mutation or only one mutant allele is identified. |
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Authors:
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Fang-Yuan Li; Ayman W El-Hattab; Erawati V Bawle; Richard G Boles; Eric S Schmitt; Fernando Scaglia; Lee-Jun Wong |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Human mutation Volume: 31 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-21 Completed Date: 2010-10-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
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Languages: eng Pagination: E1632-51 Citation Subset: IM |
Affiliation:
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Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Carnitine / blood, deficiency* Child Comparative Genomic Hybridization DNA Mutational Analysis Female Homozygote Humans Infant Infant, Newborn Male Mutation / genetics* Mutation, Missense / genetics Neonatal Screening Organic Cation Transport Proteins / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Organic Cation Transport Proteins; 0/SLC22A5 protein, human; 541-15-1/Carnitine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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