PMID- 10447264
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20041117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 1
DP  - 1999
TI  - Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter
      syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249.
      Online.
PG  - 87
AB  - Hunter syndrome is a rare, X-linked, recessively inherited disease affecting
      approximately 1 in 132,000 males. The disease is caused by the inability to
      degrade dermatan sulphate and heparan sulphate due to mutations in the
      iduronate-2-sulphatase gene (IDS). The mutations causing the disorder are
      heterogeneous, ranging from small micro-lesions to gross deletions and
      inversions. We have screened DNA samples from a panel of 24 unrelated Hunter
      syndrome patients and have identified mutations in 16 individuals. Six mutations 
      represent novel changes in the gene and these include two single base deletions
      (1264DC and 1632/3DT); two single base insertions (776/8insC and 1082insT); and
      two missense mutations--Y264N (914T-->G) and Q465P (1518A-->C). An additional two
      missense mutations and one splice site alteration identified in this study have
      been described previously. Southern analysis revealed complete or partial gene
      deletions in a further 7 patients.
FAU - Hartog, C
AU  - Hartog C
AD  - Institute of Medical Genetics for Wales, University of Wales College of Medicine,
      Cardiff, England.
FAU - Fryer, A
AU  - Fryer A
FAU - Upadhyaya, M
AU  - Upadhyaya M
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 3.1.6.13 (Iduronate Sulfatase)
SB  - IM
MH  - DNA Mutational Analysis
MH  - Humans
MH  - Iduronate Sulfatase/*genetics
MH  - Male
MH  - Mucopolysaccharidosis II/enzymology/*genetics
MH  - *Mutation
EDAT- 1999/08/14 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/08/14 10:00
PHST- 1999/08/14 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/08/14 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU13>3.0.CO;2-Q [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(1):87. doi:
      10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU14>3.0.CO;2-N.