PMID- 10533069
OWN - NLM
STAT- MEDLINE
DCOM- 20000106
LR  - 20181130
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 5
DP  - 1999
TI  - Protein truncation test for screening hamartin gene mutations and report of new
      disease-causing mutations.
PG  - 428-32
AB  - Considering the prevalence of truncating mutations in the tuberous sclerosis
      (TSC) hamartin gene (TSC1), we devised a protein truncation test (PTT) to analyze
      the full length coding sequence of TSC1. Studying 12 sporadic cases and three
      familial forms by a combination of PTT and single-strand conformation
      polymorphism analysis (SSCA), we found 5/15 mutations while PTT alone detected
      4/15 truncating mutations, two of which escaped SSCA analysis. SSCA alone picked 
      up one missense mutation and two mutations also detected by PTT. Interestingly, a
      TSC1 mutation was identified in all three familial forms (3/3) while the rate of 
      mutation detection was lower in sporadic cases (2/12). In conclusion, PTT proves 
      to be a useful technique for the rapid detection of disease-causing mutations in 
      the TSC1 gene.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Benit, P
AU  - Benit P
AD  - Unite de Recherches, INSERM U-393, Hopital des Enfants-Malades, Paris, France.
FAU - Kara-Mostefa, A
AU  - Kara-Mostefa A
FAU - Hadj-Rabia, S
AU  - Hadj-Rabia S
FAU - Munnich, A
AU  - Munnich A
FAU - Bonnefont, J P
AU  - Bonnefont JP
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  - 0 (DNA, Complementary)
RN  - 0 (Proteins)
RN  - 0 (TSC1 protein, human)
RN  - 0 (Tuberous Sclerosis Complex 1 Protein)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - DNA Primers/genetics
MH  - DNA, Complementary/genetics
MH  - Exons
MH  - Female
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
MH  - Tuberous Sclerosis/*genetics
MH  - Tuberous Sclerosis Complex 1 Protein
MH  - Tumor Suppressor Proteins
EDAT- 1999/10/26 00:00
MHDA- 1999/10/26 00:01
CRDT- 1999/10/26 00:00
PHST- 1999/10/26 00:00 [pubmed]
PHST- 1999/10/26 00:01 [medline]
PHST- 1999/10/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5 [pii]
AID - 10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(5):428-32. doi:
      10.1002/(SICI)1098-1004(199911)14:5<428::AID-HUMU9>3.0.CO;2-5.