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Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Abstract：

:An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportunity to analyze the effect of the second mutation in patients who displayed dramatically different phenotypes. A deletion of Lys-903 in one patient and a substitution of Arg for Leu-299 in another resulted in the fatal infantile form. In the adult, a T-to-G base change at position -13 of intron 1 resulted in alternatively spliced transcripts with deletion of exon 2, the location of the start codon. The low level of active enzyme (12% of normal) generated from the leakage of normally spliced mRNA sustained the patient to adult life.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Boerkoel CF,Exelbert R,Nicastri C,Nichols RC,Miller FW,Plotz PH,Raben N

subject

Has Abstract

pub_date

1995-04-01 00:00:00

pages

887-97

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

56

pub_type

杂志文章

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