PMID- 10533072
OWN - NLM
STAT- MEDLINE
DCOM- 19991102
LR  - 20041117
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 5
DP  - 1999 Nov
TI  - Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A,
      D281Y, found as a compound heterozygote with I179L in an adult onset case.
PG  - 447
AB  - The majority of mutations identified in patients with Metachromatic
      leucodystrophy are unique to individual families. We report here a new mutation
      in the arylsulphatase A gene (D281Y) identified in a patient with late-onset
      Metachromatic leucodystrophy. This mutation was inherited in cis with the common 
      pseudo-deficiency allele and in trans with the previously described I179S
      (250100.0008) mutation which complicated the enzymatic diagnosis of this
      condition. Sequence comparison shows D281 to be highly conserved amongst the
      arylsulphatases. The clinical features of this patient which are predominantly of
      a slowly progressive psychiatric and intellectual deterioration rather than rapid
      neurological impairment are typical of I179S compound heterozygotes.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Halsall, D J
AU  - Halsall DJ
AD  - Department of Clinical Biochemistry, Addenbrooke's Hospital, Hills Road,
      Cambridge, CB2 2QQ UK.
FAU - Halligan, E P
AU  - Halligan EP
FAU - Elsey, T S
AU  - Elsey TS
FAU - Cox, T M
AU  - Cox TM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.6.8 (Cerebroside-Sulfatase)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Cerebroside-Sulfatase/*genetics/metabolism
MH  - DNA/analysis
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Leukodystrophy, Metachromatic/enzymology/*genetics
MH  - Molecular Sequence Data
MH  - Mutation, Missense
EDAT- 1999/10/26 00:00
MHDA- 1999/10/26 00:01
CRDT- 1999/10/26 00:00
PHST- 1999/10/26 00:00 [pubmed]
PHST- 1999/10/26 00:01 [medline]
PHST- 1999/10/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1 [pii]
AID - 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1 [doi]
PST - ppublish
SO  - Hum Mutat. 1999 Nov;14(5):447. doi:
      10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU12>3.0.CO;2-1.