title: Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
abstract: 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).
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Pediatric Hematology/Oncology, Department of Medicine, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
authors.forename: Kris M
authors.initials: KM
authors.lastname: Mahadeo
authors.forename: Ndeye
authors.initials: N
authors.lastname: Diop-Bove
authors.forename: Sonia I
authors.initials: SI
authors.lastname: Ramirez
authors.forename: Carmen L
authors.initials: CL
authors.lastname: Cadilla
authors.forename: Enid
authors.initials: E
authors.lastname: Rivera
authors.forename: Madelena
authors.initials: M
authors.lastname: Martin
authors.forename: Norma B
authors.initials: NB
authors.lastname: Lerner
authors.forename: Lisa
authors.initials: L
authors.lastname: DiAntonio
authors.forename: Salvatore
authors.initials: S
authors.lastname: Duva
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Santiago-Borrero
authors.forename: I David
authors.initials: ID
authors.lastname: Goldman
mesh_terms: D005492:Folic Acid / Q000378:metabolism*; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006630:Hispanic or Latino / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000235:genetics*; D009154:Mutation; D058979:Proton-Coupled Folate Transporter / Q000235:genetics*; D011647:Puerto Rico
chemical_list: D058979:Proton-Coupled Folate Transporter; C505058:SLC46A1 protein, human; D005492:Folic Acid