PMID- 10094192
OWN - NLM
STAT- MEDLINE
DCOM- 19990513
LR  - 20051116
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 1
DP  - 1999 Jan
TI  - Spectrum of mutations in fucosidosis.
PG  - 60-7
AB  - Fucosidosis is a lysosomal storage disorder characterised by progressive
      psychomotor deterioration, angiokeratoma and growth retardation. It is due to
      deficient alpha-l-fucosidase activity leading to accumulation of
      fucose-containing glycolipids and glycoproteins in various tissues. Fucosidosis
      is extremely rare with less than 100 patients reported worldwide, although the
      disease occurs at a higher rate in Italy, in the Hispanic-American population of 
      New Mexico and Colorado, and in Cuba. We present here a review study of the
      mutational spectrum of fucosidosis. Exon by exon mutation analysis of FUCA1, the 
      structural gene of alpha-l-fucosidase, has identified the mutation(s) in nearly
      all fucosidosis patients investigated. The spectrum of the 22 mutations detected 
      to date includes four missense mutations, 17 nonsense mutations consisting of
      seven stop codon mutations, six small deletions, two large deletions, one
      duplication, one small insertion and one splice site mutation. All these
      mutations lead to nearly absent enzymatic activity and severely reduced
      cross-reacting immunomaterial. The observed clinical variability is, therefore,
      not due to the nature of the fucosidosis mutation, but to secondary unknown
      factors.
FAU - Willems, P J
AU  - Willems PJ
AD  - Department of Medical Genetics, University of Antwerp, Belgium.
FAU - Seo, H C
AU  - Seo HC
FAU - Coucke, P
AU  - Coucke P
FAU - Tonlorenzi, R
AU  - Tonlorenzi R
FAU - O'Brien, J S
AU  - O'Brien JS
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Animals
MH  - Disease Models, Animal
MH  - Fucosidosis/*genetics
MH  - Humans
MH  - *Mutation
MH  - Polymorphism, Genetic
RF  - 40
EDAT- 1999/03/27 00:00
MHDA- 1999/03/27 00:01
CRDT- 1999/03/27 00:00
PHST- 1999/03/27 00:00 [pubmed]
PHST- 1999/03/27 00:01 [medline]
PHST- 1999/03/27 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200272 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Jan;7(1):60-7. doi: 10.1038/sj.ejhg.5200272.