A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII)

Citation
Ml. Huie et al., A DE-NOVO 13-NT DELETION, A NEWLY IDENTIFIED C647W MISSENSE MUTATION AND A DELETION OF EXON-18 IN INFANTILE ONSET GLYCOGEN-STORAGE-DISEASE TYPE-II (GSDII), Human molecular genetics, 3(7), 1994, pp. 1081-1087
Citations number
45
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
3
Issue
7
Year of publication
1994
Pages
1081 - 1087
Database
ISI
SICI code
0964-6906(1994)3:7<1081:AD1DAN>2.0.ZU;2-4
Abstract
We identified the presumably rare event of de novo mutation in an auto somal recessive disorder, glycogen storage disease type II (GSDII). GS DII results from inherited deficiency of acid alpha-glucosidase (acid maltase) and both the expressed and structural gene (designated GAA) h ave been isolated. The mutation was a deletion of 13 nt of coding sequ ence (Delta nt 1456-1468) on the paternally derived allele of the prob and. The Delta nt 1456-1468 results in a reading frameshift and a prem ature termination signal upstream of the enzyme catalytic site. Patern ity was confirmed by presence of two downstream, uncommon amino acid s ubstitutions (E689K, W746C) in both proband and father and by comparis on of nine short tandem repeats. The maternal allele carried a newly i dentified deleterious C647W missense mutation in a highly conserved ar ea of the protein. The C647W mutation was also found in a second unrel ated proband, heteroallelic with a deletion extending from IVS17 to IV S18.