Comparison of genotype and intellectual phenotype in untreated PKU patients

We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase gene and determined both causative alleles in 12 families. The correlation between genotype and intellectual phenotype of patients in these families was examined. Our results...

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Bibliographic Details
Published in:Journal of medical genetics 1993-05, Vol.30 (5), p.401-405
Main Authors: Ramus, S J, Forrest, S M, Pitt, D B, Saleeba, J A, Cotton, R G
Format: Article
Language:English
Subjects:
Alleles
Aminoacid disorders
Base Sequence
Biological and medical sciences
DNA - analysis
DNA - chemistry
Errors of metabolism
family studies
Gene Frequency
Genotype
genotypes
Humans
Intellectual Disability - etiology
Intellectual Disability - genetics
Intelligence - genetics
man
Medical sciences
Metabolic diseases
Molecular Sequence Data
Mutation
Phenotype
phenotypes
Phenylalanine Hydroxylase - genetics
phenylketonuria
Phenylketonurias - complications
Phenylketonurias - genetics
Polymerase Chain Reaction
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Summary:We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase gene and determined both causative alleles in 12 families. The correlation between genotype and intellectual phenotype of patients in these families was examined. Our results were compared to a study which predicted phenylalanine hydroxylase activity based on genotype and examined its correlation with the biochemical phenotype of treated patients. Some of the intellectual phenotypes of patients in our study correlated well with the predicted activities. However, we found one family with a genotype expected to have no activity of phenylalanine hydroxylase where the patients were not severely retarded. Major differences in intellectual phenotype were found in patients with the same genotype both between unrelated subjects and within families, suggesting that there is not a simple correlation between genotype and intellectual phenotype.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.30.5.401