The incidence and characterization of phenylketonuric patients in Estonia

Õunap, Katrin; Lilleväli, Hardo; Klaassen, T.; Metspalu, Andres; Sitska, Mari

doi:10.1007/bf01799278

Cited by 4 publications

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“…Some differences in gene distribution in Estonia have been shown in some other genetic disorders, e.g. phenylketonuria [26] . The incidence rate of phenylketonuria during 1993-1998 was 1: 6,018 live births (total 80,523 live births) [27] and the incidence rate of cystic fibrosis during 1974-2003 was 1: 7,743 live births (total 588,502 live births) [28] .…”

Section: Discussionmentioning

confidence: 99%

Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia

et al. 2006

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Spinal muscular atrophy is the second most frequent autosomal-recessive disorder in Europeans. There are no published epidemiological data on SMA in Estonia and other Baltic countries. The aim of this study was to estimate the incidence of SMA I in Estonia. All patients with SMA I diagnosed between January 1994 and December 2003 were included in the study. The diagnosis was established on the basis of neurological evaluation, ENMG findings, molecular studies and muscle biopsy. PCR and restriction enzyme analysis was used to detect the homozygous deletion of the SMN1 gene. A total of 9 cases of SMA I were identified during this 10-year period. The incidence of SMA I in Estonia is 1 in 14,400 live births, which is similar to the result from Hungary but lower than average incidence in the world. Only one of the patients was female. Typical SMN1 gene deletion was found in all cases.

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Section: Discussionmentioning

confidence: 99%

Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia

et al. 2006

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Phenylalanine Hydroxylase Gene Mutation R408W Is Present on 84% of Estonian Phenylketonuria Chromosomes

1996

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Molecular Correlations in Phenylketonuria: Mutation Patterns and Corresponding Biochemical and Clinical Phenotypes in a Heterogeneous California Population

et al. 1999

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We studied 133 California phenylketonuria (PKU) patients and one obligate heterozygote to delineate the molecular basis of PKU in a population with greater ethnic diversity than in previous studies, and to determine whether a correlation exists between genotype and clinical phenotype, with the latter defined by both the diagnostic pretreatment blood phenylalanine (PHE) level and cognitive (IQ) test scores. To determine PAH genotypes, we used PCR-mediated amplification, denaturing gradient gel electrophoresis, and direct sequencing on dried whole blood samples. Where possible, mutation severity was defined according to predicted in vitro PAH enzyme activity estimated by using Cos cell expression analysis for a given mutation. We then asked whether mutation severity, as defined by such expression analysis, correlated with pretreatment PHE levels or with IQ test results. A mutation was identified in 236 (88%) of 267 mutant alleles. Seventeen new mutant alleles were found; A47E, T81P, I102T, E182G, T328D, Y343P, K371R, Y387H, A389E, E422K, IVS9nt5, IVS11nt20, delS70, del364-368/del198-220, delF299, delT323, and -1C/T. In striking contrast to a number of studies in other populations, in this study, based on predicted PAH activity, we observed no correlation between mutation severity and pretreatment PHE levels. There was also no correlation between genotype and IQ. We conclude that in samples collected from an ethnically heterogeneous population, there is no correlation of mutation severity with either pretreatment PHE levels or IQ measurement in treated patients. We caution that genetic counseling in PKU should incorporate the notion that prognosis may not be predicted with precision based on mutation analysis in a given patient.

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The incidence and characterization of phenylketonuric patients in Estonia

Cited by 4 publications

References 1 publication

Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia

Descriptive Epidemiology of Spinal Muscular Atrophy Type I in Estonia

Phenylalanine Hydroxylase Gene Mutation R408W Is Present on 84% of Estonian Phenylketonuria Chromosomes

Molecular Correlations in Phenylketonuria: Mutation Patterns and Corresponding Biochemical and Clinical Phenotypes in a Heterogeneous California Population

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