PMID- 10220151
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20191103
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 4
DP  - 1999
TI  - Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions:
      C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232.
      Online.
PG  - 337-8
AB  - The mutation identification rate achieved in the study of Portuguese MLD patients
      was found to be extremely high (100%), thus revealing the power of the
      association of vertical and horizontal PCR-SSCA. The identification of new
      mutations adds to the large number of mutations already described to be
      associated to MLD. Nevertheless, mutation g.1238G>A has been found in most of the
      Portuguese patients, either in homozygosity or heterozygosity, suggesting this
      mutation to be more common in Portuguese patients than in patients with other
      ethnic backgrounds. Two new missense mutations (C300F and P425T) were found to be
      associated to late infantile and juvenile forms, respectively. Two novel
      microlesions (g.1190-1191insC, g.2408delC) were identified in two late infantile 
      patients. It should be noted that both C300F and g.2408delC were detected in
      homozygosity. The approach used and the results here presented may provide useful
      information for the study of other MLD patients, as well as new insights about
      the effect of mutations, such as C300F, in the structure/function of ARSA.
FAU - Marcao, A
AU  - Marcao A
AD  - Department of Enzymology, Instituto de Genetica Medica Jacinto de Magalhaes,
      Oporto, Portugal.
FAU - Amaral, O
AU  - Amaral O
FAU - Pinto, E
AU  - Pinto E
FAU - Pinto, R
AU  - Pinto R
FAU - Sa Miranda, M C
AU  - Sa Miranda MC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Gene Deletion
MH  - Humans
MH  - Leukodystrophy, Metachromatic/*genetics
MH  - Mutation, Missense
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Portugal
EDAT- 1999/04/29 02:03
MHDA- 2000/06/22 10:00
CRDT- 1999/04/29 02:03
PHST- 1999/04/29 02:03 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/04/29 02:03 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU12>3.0.CO;2-F [pii]
AID - 10.1002/(sici)1098-1004(1999)13:4<337::aid-humu14>3.0.co;2-9 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(4):337-8. doi:
      10.1002/(sici)1098-1004(1999)13:4<337::aid-humu14>3.0.co;2-9.