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Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene

✍ Scribed by Annukka Isoniemi; Marja Hietala; Pertti Aula; Anu Jalanko; Leena Peltonen

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
921 KB
Volume
5
Category
Article
ISSN
1059-7794

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✦ Synopsis

Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGU,,,, enriched in Finland; all the other known AGU mutations are family-specific. We developed exon-specific primers to facilitate mutation search directly from the genomic DNA and identified a novel mutation, designated AGU,,, minor, in seven Finnish AGUFi, compound heterozygote patients. This deletiodframeshift mutation creates a premature translational termination codon and was shown to result in severely reduced transcript levels as quantified by the solid-phase minisequencing method. Genealogical data on this novel mutation suggest its relatively recent introduction into the population. The AGU mutations identified so far have been reported to be evenly distributed throughout the 1 kb coding region of the AGA cDNA. We identified a mutation hotspot region of 40 bp within the 12.5 kb AGA gene containing two previously identified mutations and the novel AGUFi, minor mutation characterized in this study. o 1995 WiIepLiss, Inc.

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