PMID- 11261426
OWN - NLM
STAT- MEDLINE
DCOM- 20010405
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 1
IP  - 1
DP  - 1998 Nov-Dec
TI  - Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a 
      high deletion mutation rate in isolated lissencephaly sequence.
PG  - 29-33
AB  - PURPOSE: Recent revision of the lissencephaly critical region on chromosome 
      17p13.3 and confirmation of LIS1 as the causative gene for classical 
      lissencephaly has allowed the development and application of fluorescence in situ 
      hybridization (FISH) probes corresponding directly to this gene. METHOD: We have 
      analyzed patients with isolated lissencephaly sequence (ILS) by FISH with probes 
      at D17S379, an anonymous locus distal to LIS1, and with LIS1 specific probes. 
      RESULTS: In 110 patients with ILS, a deletion at D17S379 was detected in 23.6%. 
      Of those patients without a deletion, 32 were available for further study with 
      LIS1 probes. Deletions were found in eight additional individuals. CONCLUSION: 
      The overall deletion mutation rate detectable by FISH with LIS1 probes is 
      approximately 40%. This rate is significantly higher than the deletion rate 
      observed at D17S379. This indicates that FISH studies using probes specific to 
      LIS1 should be undertaken as the initial diagnostic assay for the evaluation of 
      patients with ILS, and the high frequency of deletions raises the possibility of 
      "hotspots" for chromosome breakage in this region.
FAU - Pilz, D T
AU  - Pilz DT
AD  - Department of Human Genetics, The University of Chicago, Illinois 60637, USA.
FAU - Macha, M E
AU  - Macha ME
FAU - Precht, K S
AU  - Precht KS
FAU - Smith, A C
AU  - Smith AC
FAU - Dobyns, W B
AU  - Dobyns WB
FAU - Ledbetter, D H
AU  - Ledbetter DH
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
RN  - 0 (Genetic Markers)
RN  - 0 (Microtubule-Associated Proteins)
RN  - EC 3.1.1.47 (1-Alkyl-2-acetylglycerophosphocholine Esterase)
RN  - EC 3.1.1.47 (PAFAH1B1 protein, human)
SB  - IM
CIN - Genet Med. 1999 Mar-Apr;1(3):118. PMID: 11336451
MH  - 1-Alkyl-2-acetylglycerophosphocholine Esterase
MH  - Brain/*abnormalities
MH  - Chromosomes, Human, Pair 17
MH  - Female
MH  - Gene Deletion
MH  - *Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Microtubule-Associated Proteins/*genetics
MH  - *Mutation
EDAT- 2001/03/23 10:00
MHDA- 2001/04/06 10:01
CRDT- 2001/03/23 10:00
PHST- 2001/03/23 10:00 [pubmed]
PHST- 2001/04/06 10:01 [medline]
PHST- 2001/03/23 10:00 [entrez]
AID - S1098-3600(21)00284-7 [pii]
AID - 10.1097/00125817-199811000-00007 [doi]
PST - ppublish
SO  - Genet Med. 1998 Nov-Dec;1(1):29-33. doi: 10.1097/00125817-199811000-00007.