|
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 (Publisher's DOI)
|
|
|
|
|
|