Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico
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Authors
Mahadeo, Kris M.Diop-Bove, Ndeye
Ramirez, Sonia I.
Cadilla, Carmen L.
Rivera, Enid
Martin, Madelena M.
Lerner, Norma B.
DiAntonio, Lisa
Duva, Salvatore
Santiago-Borrero, Pedro J.
Goldman, I. David
UMass Chan Affiliations
Department of PediatricsDocument Type
Journal ArticlePublication Date
2011-10-01Keywords
Folic AcidGenetic Testing
Heterozygote Detection
Hispanic Americans
Homozygote
Humans
Infant, Newborn
Malabsorption Syndromes
Mutation
Proton-Coupled Folate Transporter
Puerto Rico
Genetics and Genomics
Medical Genetics
Pediatrics
Metadata
Show full item recordAbstract
OBJECTIVE: To determine whether subjects of Puerto Rican heritage are at increased risk for a specific mutation of the proton-coupled folate transporter (PCFT) causing hereditary folate malabsorption (HFM). STUDY DESIGN: Three percent of the births in Puerto Rico in 2005, with additional regional oversampling, were screened for the prevalence of the c.1082G>A; p.Y362_G389 del PCFT gene mutation. Six new subjects of Puerto Rican heritage with the clinical diagnosis of HFM were also assessed for this mutation. RESULTS: Six subjects of Puerto Rican heritage with the clinical diagnosis of HFM were all homozygous for the c.1082G>A; p.Y362_G389 del PCFT mutation. Three heterozygote carriers were identified from the 1582 newborn samples randomly selected from births in Puerto Rico in 2005. The carrier frequency for the mutated allele was 0.2% island-wide and 6.3% in Villalba. CONCLUSION: These findings are consistent with a common mutation in the PCFT gene causing HFM that has disseminated to Puerto Ricans who have migrated to mainland United States. Because prompt diagnosis and treatment of infants with HFM can prevent the consequences of this disorder, newborn screening should be considered in high-risk populations and physicians should be aware of its prevalence in infants of Puerto Rican ancestry.Source
J Pediatr. 2011 Oct;159(4):623-7.e1. Epub 2011 Apr 13. Link to article on publisher's websiteDOI
10.1016/j.jpeds.2011.03.005Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43289PubMed ID
21489556Related Resources
Link to article in PubMedae974a485f413a2113503eed53cd6c53
10.1016/j.jpeds.2011.03.005