Linked Life Data

11434725

Source:http://linkedlifedata.com/resource/pubmed/id/11434725

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2001-7-3
pubmed:abstractText
Phenylketonuria is one of the most common genetic diseases in humans, affecting 1 in 10,000 whites. Deletions are generally uncommon in genes in which no long highly homologous segments are present, and in phenylalanine hydroxylase (PAH) deficiency they represent only 5% of cases. We present the case of a girl affected by classical phenylketonuria who has been screened for mutations in the PAH gene. During the molecular study a large de novo deletion has detected in 12qter, including PAH, and the genes for insulin-like growth factor 1 (IGF1), human achaete-scute homolog 1 (ASCL1), and tumor rejection antigen (TRA1). The patient showed phenylketonuria, short stature, and pathological electro-oculography results in both eyes, with high affectation of the relative electrogenesis of the photoreceptor-pigment epithelium complex. She had previously been misdiagnosed as homozygous for the IVS8nt-7A-G mutation, instead of heterozygous for a mutation and a de novo deletion. As a result incorrect genetic counseling had been given. The deletion of the PAH, IGF1, and ASCL1 genes could explain the patient's phenotype corresponding to a contiguous gene syndrome. We stress the relevance of polymorphic marker haplotype analysis and the importance of family study in genetic recessive diseases, such as phenylketonuria, to avoid incorrect diagnosis and genetic counseling.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0946-2716
pubmed:author
pubmed:issnType
Print
pubmed:volume
78
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
721-4
pubmed:dateRevised
2011-7-8
pubmed:meshHeading
pubmed-meshheading:11434725-Antigens, Neoplasm, pubmed-meshheading:11434725-Basic Helix-Loop-Helix Transcription Factors, pubmed-meshheading:11434725-Child, Preschool, pubmed-meshheading:11434725-Chromosome Deletion, pubmed-meshheading:11434725-Chromosomes, Human, Pair 12, pubmed-meshheading:11434725-DNA-Binding Proteins, pubmed-meshheading:11434725-Female, pubmed-meshheading:11434725-Gene Deletion, pubmed-meshheading:11434725-Humans, pubmed-meshheading:11434725-In Situ Hybridization, Fluorescence, pubmed-meshheading:11434725-Insulin-Like Growth Factor I, pubmed-meshheading:11434725-Microsatellite Repeats, pubmed-meshheading:11434725-Phenylalanine Hydroxylase, pubmed-meshheading:11434725-Phenylketonurias, pubmed-meshheading:11434725-Physical Chromosome Mapping, pubmed-meshheading:11434725-Transcription Factors
pubmed:year
2001
pubmed:articleTitle
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
pubmed:affiliation
Servei Genètica, Hospital Clínic, Barcelona, Spain.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't