PMID- 10206678
OWN - NLM
STAT- MEDLINE
DCOM- 19990412
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 11
IP  - 5
DP  - 1998
TI  - Two novel mutations of the arylsulfatase B gene in two Italian patients with
      severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.
PG  - 410
AB  - Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal
      recessive disorder, due to the deficiency of the lysosomal enzyme
      N-acetylgalactosamine-4-sulfatase (arylsufatase B, ASB: EC 3.1.6.12). Three
      classical forms of the disease have been differentiated: severe, intermediate,
      mild. Mutational analysis of the ASB gene resulted in the identification of 30
      ASB mutant alleles, each of which was found to be unique among unrelated
      patients, demonstrating a broad molecular heterogeneity of the disease. In this
      communication we present two novel mutant alleles in two severely affected
      subjects. Both alterations, the missense mutation G302R and the nonsense Q456X,
      were found in homozygosity and were confirmed by amplification refractory
      mutation system (ARMS) or restriction analysis. The missense G302R mutation
      concerns an amino acid which may be of special importance to the polypeptide,
      since 302 position is completely conserved in all the eukaryotic sulfatases
      aligned so far; the nonsense mutation Q456X leads to the translation of a
      putative mutant ASB protein lacking the last 78 amino acids with a loss of the 8 
      kD mature polypeptide, one of the two peptides generated by intralysosomal
      proteolytic processing of the 64kD precursor.
FAU - Villani, G R
AU  - Villani GR
AD  - Department of Biochemistry and Medical Biotechnologies, Medical School,
      University of Naples Federico II, Naples, Italy.
FAU - Balzano, N
AU  - Balzano N
FAU - Di Natale, P
AU  - Di Natale P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase)
SB  - IM
MH  - Alleles
MH  - Genes, Recessive
MH  - Humans
MH  - Mucopolysaccharidosis VI/*genetics/pathology
MH  - Mutation/*genetics
MH  - N-Acetylgalactosamine-4-Sulfatase/*genetics
EDAT- 1999/04/17 02:16
MHDA- 2000/06/22 10:00
CRDT- 1999/04/17 02:16
PHST- 1999/04/17 02:16 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/17 02:16 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8 [pii]
AID - 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q [doi]
PST - ppublish
SO  - Hum Mutat. 1998;11(5):410. doi:
      10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q.