A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs

Sandra Kleiman, Jeanna Bernstein, Gerard Schwartz, Randy C. Eisensmith, Savio L.C. Woo, Yosef Shiloh

Research output: Contribution to journalArticlepeer-review

Abstract

Phenylketonuria (PKU) and benign hyperphenylalaninemia (HPA) result from different combinations of mutations at the locus for phenylalanine hydroxylase (PAH). While some of these mutations show widespread ethnic distribution, others are unique to specific communities. We report here the first point mutation common among Palestinian Arabs. The mutation (IVS2nt 1) involves a dinucleotide substitution (Gg→Aa) at the donor splice site of intron 2 of the PAH gene and abolishes a recognition site of the restriction enzyme MnlI. IVS2nt 1 is associated with two PAH polymorphic haplotypes, 7 and 42. Homozygotes for this mutation are affected with severe, classical PKU. Compound heterozygotes carrying the IVS2nt 1 allele and one of several other yet unknown mutations show different degrees of benign HPA. © 1992 Wiley‐Liss, Inc.

Original languageEnglish
Pages (from-to)340-343
Number of pages4
JournalHuman Mutation
Volume1
Issue number4
DOIs
StatePublished - 1992

Keywords

  • Hyperphenylalaninemia
  • Palestinian Arabs
  • Phenylalanine hydroxylase mutations
  • Phenylketonuria

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