PMID- 17661408
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20070830
LR  - 20070802
IS  - 0270-9139 (Print)
IS  - 0270-9139 (Linking)
VI  - 46
IP  - 2
DP  - 2007 Aug
TI  - Increasing the mutation rate for Jagged1 mutations in patients with Alagille 
      syndrome.
PG  - 598-9
AB  - Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and 
      mutations have been previously reported in about 70% of patients who meet 
      clinical diagnostic criteria. We studied a cohort of 247 clinically well-defined 
      patients, and using an aggressive and sequential screening approach we identified 
      JAG1 mutations in 94% of individuals. Mutations were found in 232 out of 247 
      patients studied and 83 of the mutations were novel. This increase in the 
      mutation rate was accomplished by combining rigorous clinical phenotyping, with a 
      combination of mutation detection techniques, including fluorescence in situ 
      hybridization (FISH), genomic and cDNA sequencing, and quantitative PCR. This 
      higher rate of mutation identification has implications for clinical practice, 
      facilitating genetic counseling, prenatal diagnosis, and evaluation of 
      living-related liver transplant donors. Our results suggest that more aggressive 
      screening may similarly increase the rate of mutation detection in other dominant 
      and recessive disorders.
FAU - Suskind, David L
AU  - Suskind DL
AD  - Division of Gastroenterology, Seattle Children's Hospital, University of 
      Washington School of Medicine, Seattle, WA, USA.
FAU - Murray, Karen F
AU  - Murray KF
LA  - eng
PT  - Comment
PT  - Journal Article
PL  - United States
TA  - Hepatology
JT  - Hepatology (Baltimore, Md.)
JID - 8302946
CON - Hum Mutat. 2006 May;27(5):436-43. PMID: 16575836
EDAT- 2007/07/31 09:00
MHDA- 2007/07/31 09:01
CRDT- 2007/07/31 09:00
PHST- 2007/07/31 09:00 [pubmed]
PHST- 2007/07/31 09:01 [medline]
PHST- 2007/07/31 09:00 [entrez]
AID - 10.1002/hep.21860 [doi]
PST - ppublish
SO  - Hepatology. 2007 Aug;46(2):598-9. doi: 10.1002/hep.21860.