PMID- 10338095
OWN - NLM
STAT- MEDLINE
DCOM- 19990811
LR  - 20091119
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 5
DP  - 1999
TI  - Six novel beta-galactosidase gene mutations in Brazilian patients with
      GM1-gangliosidosis.
PG  - 401-9
AB  - GM1-gangliosidosis is a lysosomal storage disease caused by a deficiency of acid 
      beta-galactosidase. Three clinical forms are recognized-infantile, juvenile, and 
      adult-based on age of onset and severity of the symptoms. We have performed
      molecular analysis of a large cohort of GM1 patients (19 Brazilian and one
      Uruguayan), using nonradioactive single-strand conformation polymorphism (SSCP)
      and restriction enzyme analysis of genomic DNA. Six novel mutations (R121S,
      V240M, D491N, 638-641insT, 895-896insC, 1622-1627insG) and two previously
      described point mutations (R59H, R208C) were identified. Together they accounted 
      for 90% of the disease alleles of the patients. Two mutations, 1622-1627insG and 
      R59H, were present in 18 of 20 patients. In addition, four polymorphisms (L10P,
      L12L, R521C, S532G) were identified. All cases reported are infantile GM1
      gangliosidosis. This report constitutes the most comprehensive molecular study to
      date of this disorder in infantile patients. Since GM1-gangliosidosis is the most
      common lysosomal storage disorder in Southern Brazil, molecular diagnosis will be
      important for genetic counseling, carrier detection and prenatal diagnosis in
      index families.
FAU - Silva, C M
AU  - Silva CM
AD  - Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rio Grande do
      Sul, Brazil.
FAU - Severini, M H
AU  - Severini MH
FAU - Sopelsa, A
AU  - Sopelsa A
FAU - Coelho, J C
AU  - Coelho JC
FAU - Zaha, A
AU  - Zaha A
FAU - d'Azzo, A
AU  - d'Azzo A
FAU - Giugliani, R
AU  - Giugliani R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Primers)
RN  - EC 3.2.1.23 (beta-Galactosidase)
SB  - IM
MH  - Brazil
MH  - DNA Mutational Analysis
MH  - DNA Primers
MH  - Frameshift Mutation
MH  - Gangliosidosis, GM1/*genetics
MH  - Genetic Testing
MH  - Humans
MH  - Infant
MH  - Lysosomes/metabolism
MH  - Mutation, Missense
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - beta-Galactosidase/*genetics
EDAT- 1999/05/25 06:00
MHDA- 2000/06/22 10:00
CRDT- 1999/05/25 06:00
PHST- 1999/05/25 06:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/05/25 06:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(5):401-9. doi:
      10.1002/(SICI)1098-1004(1999)13:5<401::AID-HUMU9>3.0.CO;2-N.