A Novel Variant in the PAH Gene Causing Phenylketonuria in an Iranian Pedigree.

ABSTRACT:

Background

Phenylalanine hydroxylase (PAH) gene is the well-known causative gene for classic Phenylketonuria (PKU) (OMIM#261600) disease, with more than 500 reported mutations. Through this study, a novel mutation in the PAH gene in an Iranian pedigree with phenylketonuria was introduced.

Methods

A consanguineous family with a 10-year old affected girl was referred for genetic analysis. Mutation screening of all exons and exon-intron boundaries was performed by Sanger sequencing, and mini haplotype analysis was carried out by genotyping of Short Tandem Repeat (STR) and Variable Number Tandem Repeat (VNTR) alleles.

Results

Mutation analysis revealed a novel homozygous insertion of a single adenine nucleotide at position 335 in exon 3 of the PAH gen

SUBMITTER: Alavinejad E 

PROVIDER: S-EPMC5501143 | biostudies-literature | 2017 Jul-Sep

REPOSITORIES: biostudies-literature