PMID- 10660328
OWN - NLM
STAT- MEDLINE
DCOM- 20000201
LR  - 20060513
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 3
DP  - 1998
TI  - Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a
      Portuguese patient. Mutations in brief no. 177. Online.
PG  - 214-5
AB  - We report a novel beta-sarcoglycan gene mutation identified in a 21-year-old
      Portuguese male with a progressive myopathy of intermediate severity, who had
      been misdiagnosed as Becker Muscular Dystrophy (BMD) based on clinical
      observations and muscle immunocytochemical anaylsis with dystrophin antibodies
      only. Since no detectable deletions or duplications were found in the dystrophin 
      gene, we screened for mutations in the sarcoglycan genes by PCR-SSCP. The
      patient's sample showed a band of increased mobility in exon 4 of the
      beta-sarcoglycan gene which, upon sequencing, was found to represent a homozygous
      A-->G transversion at nucleotide 551, resulting in a tyrosine to cysteine
      substitution at position 184 (Y184C). Carrier status was ascertained in both
      parents and a sister. These aberrant conformers were not detected in 85 unrelated
      control individuals screened by PCR-SSCP analysis. All seven beta-sarcoglycan
      mutations reported to date are associated with a severe phenotype and occur in
      exons 3 and 4, which correspond to the immediate extracellular domain of the
      protein. This region contains five conserved cysteine residues. In our patient,
      the presence of an extra cysteine residue could interefere with intra- and/or
      inter-molecular disulphide bond formation. The intermediate phenotype could
      perhaps result from the assembly of both normal and abnormal complexes, depending
      on the formation of the disulphide bonds.
FAU - dos Santos, M R
AU  - dos Santos MR
AD  - Unidade de Genetica Molecular, Instituto de Genetica Medica Jacinto de Magalhaes,
      Porto, Portugal. molecular@igmjm.pt
FAU - Jorge, P
AU  - Jorge P
FAU - Ribeiro, E M
AU  - Ribeiro EM
FAU - Pires, M M
AU  - Pires MM
FAU - Guimaraes, A
AU  - Guimaraes A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (DAG1 protein, human)
RN  - 0 (Membrane Glycoproteins)
RN  - 146888-27-9 (Dystroglycans)
SB  - IM
MH  - Adult
MH  - Cytoskeletal Proteins/*genetics
MH  - Diagnosis, Differential
MH  - Dystroglycans
MH  - Exons/*genetics
MH  - Humans
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Muscular Dystrophy, Duchenne/diagnosis/*genetics
MH  - Mutation/*genetics
EDAT- 2000/02/05 00:00
MHDA- 2000/02/05 00:01
CRDT- 2000/02/05 00:00
PHST- 2000/02/05 00:00 [pubmed]
PHST- 2000/02/05 00:01 [medline]
PHST- 2000/02/05 00:00 [entrez]
PST - ppublish
SO  - Hum Mutat. 1998;12(3):214-5.