PMID- 16575836
OWN - NLM
STAT- MEDLINE
DCOM- 20060616
LR  - 20161128
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 27
IP  - 5
DP  - 2006 May
TI  - Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection 
      rate.
PG  - 436-43
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 - Warthen, D M
AU  - Warthen DM
AD  - Division of Human Genetics and Molecular Biology, The Children's Hospital of 
      Philadelphia and University of Pennsylvania School of Medicine, 19104, USA.
FAU - Moore, E C
AU  - Moore EC
FAU - Kamath, B M
AU  - Kamath BM
FAU - Morrissette, J J D
AU  - Morrissette JJ
FAU - Sanchez-Lara, P A
AU  - Sanchez-Lara PA
FAU - Piccoli, D A
AU  - Piccoli DA
FAU - Krantz, I D
AU  - Krantz ID
FAU - Spinner, N B
AU  - Spinner NB
LA  - eng
SI  - OMIM/118450
SI  - OMIM/601920
GR  - DK53104/DK/NIDDK NIH HHS/United States
GR  - U54RR019455/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (JAG1 protein, human)
RN  - 0 (Jagged-1 Protein)
RN  - 0 (Membrane Proteins)
RN  - 0 (Serrate-Jagged Proteins)
SB  - IM
EIN - Hum Mutat. 2013 Feb;34(2):408. Sanchez, P [corrected to Sanchez-Lara, P A]
CIN - Hepatology. 2007 Aug;46(2):598-9. PMID: 17661408
MH  - Alagille Syndrome/diagnosis/*genetics
MH  - Calcium-Binding Proteins/*genetics
MH  - Cohort Studies
MH  - DNA Mutational Analysis
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intercellular Signaling Peptides and Proteins
MH  - Jagged-1 Protein
MH  - Membrane Proteins/*genetics
MH  - *Mutation
MH  - Polymorphism, Genetic
MH  - Serrate-Jagged Proteins
EDAT- 2006/04/01 09:00
MHDA- 2006/06/17 09:00
CRDT- 2006/04/01 09:00
PHST- 2006/04/01 09:00 [pubmed]
PHST- 2006/06/17 09:00 [medline]
PHST- 2006/04/01 09:00 [entrez]
AID - 10.1002/humu.20310 [doi]
PST - ppublish
SO  - Hum Mutat. 2006 May;27(5):436-43. doi: 10.1002/humu.20310.