PMID- 10340647
OWN - NLM
STAT- MEDLINE
DCOM- 20000218
LR  - 20071114
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 84
IP  - 4
DP  - 1999 Jun 4
TI  - Type 1 Gaucher disease presenting with extensive mandibular lytic lesions:
      identification and expression of a novel acid beta-glucosidase mutation.
PG  - 334-9
AB  - The finding of extensive lytic lesions in the mandible of a 19-year-old Ashkenazi
      Jewish woman led to the diagnosis of Type 1 Gaucher disease. She had extensive
      skeletal involvement, marked hepatosplenomegaly, and deficient acid
      beta-glucosidase activity. Mutation analysis identified heteroallelism for acid
      beta-glucosidase mutations N370S and P401L, the latter being a novel missense
      mutation in exon 9. Expression of the P401L allele resulted in an enzyme with a
      reduced catalytic activity (specific activity based on cross-reacting
      immunological material approximately 0.21), which was similar to that of the mild
      N370S mutant enzyme. The expression studies predicted a mild phenotype for the
      proposita's N370S/P401L genotype which was inconsistent with her severe diffuse
      skeletal disease and organ involvement. Since lytic mandibular lesions may be
      complicated by osteomyelitis, pathologic fracture, and tooth loss, regular dental
      assessments in Type 1 Gaucher patients should be performed.
FAU - Wasserstein, M P
AU  - Wasserstein MP
AD  - Department of Human Genetics, Mount Sinai School of Medicine, New York, New York,
      USA. Melissa_Wasserstein@smtplink.mssm.edu
FAU - Martignetti, J A
AU  - Martignetti JA
FAU - Zeitlin, R
AU  - Zeitlin R
FAU - Lumerman, H
AU  - Lumerman H
FAU - Solomon, M
AU  - Solomon M
FAU - Grace, M E
AU  - Grace ME
FAU - Desnick, R J
AU  - Desnick RJ
LA  - eng
GR  - 5 M01 RR00071/RR/NCRR NIH HHS/United States
GR  - 5 P30 HD28822/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - EC 3.2.1.21 (beta-Glucosidase)
SB  - IM
MH  - Child
MH  - Female
MH  - Gaucher Disease/*genetics
MH  - Humans
MH  - Immunoblotting
MH  - Mandibular Diseases/*genetics
MH  - Mutation, Missense/genetics
MH  - beta-Glucosidase/*genetics
EDAT- 1999/05/26 06:00
MHDA- 2000/02/26 09:00
CRDT- 1999/05/26 06:00
PHST- 1999/05/26 06:00 [pubmed]
PHST- 2000/02/26 09:00 [medline]
PHST- 1999/05/26 06:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19990604)84:4<334::AID-AJMG5>3.0.CO;2-P [pii]
PST - ppublish
SO  - Am J Med Genet. 1999 Jun 4;84(4):334-9.