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LDS
BEALS blue sclerae
large joint PDA, VSD, ASD vascular tortuosity
contractures hypertelorism
ear deformity camptodactyly bifid uvula
arachnodactly
MVP joint laxity aortic dilitation hypomyoplasia scoliosis
dolichostenomelia pectus deformity
pes planus
lens dislocation
MFS
Parents: the Filter for New Variants in the Child
3MVariants/g
91-238New Variations/g/gen
Genetics 2000:156, 297-304 Curr. Biol. 2009:19, 1-5
Allele Specific Expression, CPNE1
15 C
0 G
6 C
58 G
5 C
50 G
Mother FatherChild
Inserted T in CPNE1results in truncated protein and loss of VWA protein domain
WT CPNE1
Daughter
Mother
Father
reference
reference
reference
WT CPNE1
Inserted T in CPNE1
• Jay Flatley
• Gary Schroth
• Irina Khrebtukova
• Steffen Durinck
• Shujun Luo
• Kevin Gunderson
• Ray McCauley
• Chris Burge
• Vincent Butty
• John Cleary
• Roni Cohen
• Marc Vidal
• Tong Hao
• Andy Fire
• Amy Chen
• Nick Okasinski
• Julie Yu
• Alan Littleford
• Se-Jin Lee
• Nazli MacDonald
• John Sotos
• Alan Beggs
• David Clapham
• Hal Dietz
• David Valle
• Victor McKusick
Managing Beatrice
Monitor her vasculature
Continue losartan
Further the investigation
Find other Beatrices
The Ultimate Charmer