ArticleJournal of inherited metabolic disease1999
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.
Article in Journal of inherited metabolic disease, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.Molecular genetics and metabolism · 2009Article
- Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.Journal of inherited metabolic disease · 2008Article
- Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.Experimental & molecular medicine · 2008Article
- Glycine N -methyltransferase deficiency: a new patient with a novel mutation.Journal of inherited metabolic disease · 2003Article
- Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.Journal of inherited metabolic disease · 2002Article
- Mutation analysis in glutaric aciduria type I.Journal of medical genetics · 2000Article
- Diagnostic uses of DNA analysis: powerful but problematic.Journal of inherited metabolic disease · 1999Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical use of molecular analyses in recessive disorders relies on the exact characterization of both mutant alleles in the affected patient. This can be problematic when only part of the gene is examined or when relevant DNA alterations are not recognized by standard methods. We present a child in whom phenylketonuria was apparently caused by homozygosity for the mutation E390G in exon 11 of the phenylalanine hydroxylase (PAH) gene. However, the clinical severity of the disease was not quite as mild as expected, the mutation was not identified in the father despite confirmed paternity, and the paternal allele showed a highly unusual pattern of polymorphic markers in the PAH gene. Presence of a large deletion involving exons 9, 10 and 11 of the phenylalanine hydroxylase gene was confirmed by long-range PCR. Diagnostic DNA analyses should include a comprehensive examination of the whole relevant gene in the patient and confirmation of carrier status in both parents.
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