In:
Journal of Pediatric Endocrinology and Metabolism, Walter de Gruyter GmbH, Vol. 30, No. 11 ( 2017-01-1)
Abstract:
The accurate interpretation of sequence variation is critical for successful molecular diagnoses. It is also fundamental to the accurate diagnosis and treatment of phenylketonuria (PKU). This study aims to evaluate the significance of the c.158G 〉 A (p.Arg53His) variant in the Methods: Seven unrelated Korean patients with HPA genotyped with the c.158G 〉 A variant were included in this study. The variant c.158G 〉 A was classified by the standards and guidelines for the interpretation of sequence variants by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Results: By both directly collecting genetic data and comprehensively reviewing the existing literature, we found that this variant is more appropriately classified as “Likely benign” rather than pathogenic. The allele’s frequency is 2.57% in the general Korean population, which was greater than expected for phenylketonuria. This variant was observed to be homozygous in healthy subjects and was also observed in Conclusions: This study expands our understanding of the consequences of variation in
Type of Medium:
Online Resource
ISSN:
2191-0251
,
0334-018X
DOI:
10.1515/jpem-2017-0158
Language:
Unknown
Publisher:
Walter de Gruyter GmbH
Publication Date:
2017
detail.hit.zdb_id:
2583847-7
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