Publication
Title
Six additional mutations in fucosidosis : three nonsense mutations and three frameshift mutations
Author
Abstract
The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of alpha-L-fucosidase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1. (1) A C to T mutation (Q77X) in exon 1 of two Jewish-Italian siblings. This mutation was present in one allele and was found also in the mother who was of Italian origin. (2) A C to A mutation (W382X) in exon 6 in an Italian patient. This mutation was found in one allele and obliterates a unique HphI site. (3) A C to A mutation (Y211X) in exon 3 in a Belgian patient. This mutation obliterates a unique RsaI site and was present in both alleles. (4) A homozygous single base (C) deletion in exon 2 in an Italian patient. This deletion results in a frameshift mutation (P141fs) and obliterates a unique EaeI site. (5) A homozygous single base (C) deletion in exon 5 in a Portuguese patient, which also results in a frameshift mutation (S265fs). (6) A single base (A) deletion in exon 3 in a Canadian-Indian patient, which also results in a frameshift Mutation (S216fs). The S216fs mutation was found in only one allele; the mutation in the other allele is not yet known.
Language
English
Source (journal)
Human molecular genetics. - Oxford
Publication
Oxford : 1993
ISSN
0964-6906
Volume/pages
2:8(1993), p. 1205-1208
ISI
A1993LV83600017
Full text (Publishers DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 03.01.2013
Last edited 26.04.2017
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