Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico

UMMS Affiliation

Department of Pediatrics

Publication Date


Document Type



Folic Acid; Genetic Testing; Heterozygote Detection; Hispanic Americans; Homozygote; Humans; Infant, Newborn; Malabsorption Syndromes; Mutation; Proton-Coupled Folate Transporter; Puerto Rico


Genetics and Genomics | Medical Genetics | Pediatrics


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.

DOI of Published Version



J Pediatr. 2011 Oct;159(4):623-7.e1. Epub 2011 Apr 13. Link to article on publisher's website

Journal/Book/Conference Title

The Journal of pediatrics

Related Resources

Link to article in PubMed

PubMed ID