PMID- 10583255
OWN - NLM
STAT- MEDLINE
DCOM- 20000131
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 107
IP  - 3
DP  - 1999 Dec
TI  - Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier 
      syndrome.
PG  - 539-45
AB  - Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to
      quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V
      complex, the platelet receptor for von Willebrand factor. We describe here the
      genetic basis of the disorder in a patient with BSS. Flow cytometric analysis of 
      the patient's platelets showed a greatly reduced GPIbalpha and completely absent 
      GPIX surface expression. Immunoblot analysis disclosed greatly reduced GPIbalpha 
      and residual amounts of GPIbbeta and GPIX in the platelets. DNA sequencing
      analysis revealed the patient to be homozygous for a novel missense mutation in
      the GPIX gene that converts Cys (TGT) to Tyr (TAT) at residue 97. Transient
      transfection studies confirmed that mutant GPIX was not expressed on the
      transfected cells, showing that the mutation was responsible for the BSS
      phenotype observed in the patient.
FAU - Kunishima, S
AU  - Kunishima S
AD  - Japanese Red Cross Aichi Blood Centre, Seto, Aichi, Japan.
      kunisima@fujita-hu.ac.jp
FAU - Tomiyama, Y
AU  - Tomiyama Y
FAU - Honda, S
AU  - Honda S
FAU - Kurata, Y
AU  - Kurata Y
FAU - Kamiya, T
AU  - Kamiya T
FAU - Ozawa, K
AU  - Ozawa K
FAU - Saito, H
AU  - Saito H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 0 (Platelet Glycoprotein GPIb-IX Complex)
RN  - 42HK56048U (Tyrosine)
RN  - K848JZ4886 (Cysteine)
SB  - IM
MH  - Bernard-Soulier Syndrome/*genetics
MH  - Cysteine/genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Platelet Glycoprotein GPIb-IX Complex/*genetics
MH  - Sequence Analysis, DNA
MH  - Tyrosine/genetics
EDAT- 1999/12/03 00:00
MHDA- 1999/12/03 00:01
CRDT- 1999/12/03 00:00
PHST- 1999/12/03 00:00 [pubmed]
PHST- 1999/12/03 00:01 [medline]
PHST- 1999/12/03 00:00 [entrez]
AID - bjh1733 [pii]
AID - 10.1046/j.1365-2141.1999.01733.x [doi]
PST - ppublish
SO  - Br J Haematol. 1999 Dec;107(3):539-45. doi: 10.1046/j.1365-2141.1999.01733.x.