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. Author manuscript; available in PMC: 2010 Jun 8.
Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76–81. doi: 10.1002/bdra.20534

Table 1.

Phenotypes of Patients Diagnosed with DB/FOAR Syndrome

Patient Sex Age at
last
examination		 CDH Omphalocele/
umbilical
hernia		 Hypertelorism High
myopia		 Coloboma ACC Large
AF		 OFC >
95th
percentile		 HL Dev
Del		 Proteinuria Miscellaneous LRP2
Mutant
alleles
(pat/mat)		 Consanguinitya
Holmes Patient 1 (Holmes and Schepens, 1972) F 2¾ years − − + + − + + + − + −
Holmes Patient 2 (sib of
    Patient1)
(Holmes and Schepens, 1972)		 M 7 years − + + + + + + + + Microcornea, L cataract,
    ureteral reflux, B inguinal
    hernia
Donnai Patient 1 (Donnai and Barrow, 1993; Kantarci and others, 2007) M 19 years + + + + + + + − + + + Prominent eyes, L retinal
    detachment, seizures		 IVS44+1G>A /
c.10195C>T (p.R3399X)		 −
Donnai Patient 2 (sib of
    Patient 1) (Donnai and Barrow, 1993; Kantarci and others, 2007)		 F 21-week fetus + + + + + + + N/A IVS44+1G>A /
c.10195C>T (p.R3399X)
Donnai Patient 3 (sib of
    Patient 1 and 2)		 F 17-week fetus + + + + + + N/A DORV, VSD IVS44+1G>A /
c.10195C>T
(p.R3399X)
(Donnai and Barrow, 1993)
    (Gripp and others, 1997;
    Kantarci and others, 2007)
Donnai Pt 3 (Donnai and Barrow, 1993) F Died at 6.5 years + + + + − + + + + + N/A Onset seizures just prior to
    death		 −
Donnai Patient 4 (sib of
    Patient3) (Donnai and Barrow, 1993)		 M 19-week fetus + − + N/A
Donnai Patient in proof
    (Donnai and Barrow, 1993;
    Kantarci and others, 2007)		 F 16 years + − + + − + + + + + VSD, PDA, retinal pigmentary
    changes, seizures		 c.8516_8519delTTTA /
c.8516_8519delTTTA
(p.V2839VfsX67)		 +
Gripp Patient 1 (Gripp and others, 1997) M NND + + + + + + N/A +
Gripp Patient in proof (Gripp and others, 1997) F NND + − + + + + N/A Bicornuate uterus −
Schowalter (Schowalter and others, 1997) M 11 years − − + + + + + − + R posterior subcapsular
    cataract		 −
Devriendt (Devriendt and others, 1998; Kantarci and others, 2007) M 12 years + − + + − − + + + + + Proptosis, Serum retinol = 238
    ug/L (300–650)		 IVS11+2T>G /
c.1093C>T (p.R365X)		 −
Avunduk (Avunduk and others, 2000) M 9 months − + + + + + + N/A Proptosis +
Chassaing Patient 1
    (Chassaing and others, 2003; Kantarci and others, 2007)		 M 22 weeks fetus − − + + + − N/A Prominent eyes, arachnoid
    cyst		 c.9484_9485delGT/ IVS18-
1G>A (p.V3162LfsX2)		 −
Chassaing Patient 2 (sib of
   Pt1) (Chassaing and others, 2003; Kantarci and others, 2007)		 M 25 weeks fetus + − + + + − N/A c.9484_9485delGT/ IVS18-
1G>A (p.V3162LfsX2)
Chassaing Pt 3 (Chassaing and others, 2003; Kantarci and others, 2007) F 26 weeks fetus + − + − N/A c.13139insC / IVS7-2A>G
(p.P4380PfsX12)		 −
Chassaing Patient 4 (sib of
   Patient3) (Chassaing and others, 2003; Kantarci and others, 2007)		 F 6 years − + + + − + − − + + + Retinal dystrophy, serum
    retinol = 210 ug/L (300–
    650)		 c.13139insC / IVS7-2A>G
(p.P4380PfsX12)
Patel Patient 1 (Patel and others, 2007) M 4 years + + + + − + + + N/A Enlarged globes, diffuse R
    posterior subcapsular
    opacity, R retinal
    detachment, retinal
    pigmentary changes		 −
Patel Patient 2 (sib of Patient1)
   (Patel and others, 2007)		 F 2 years − + + + − + N/A Enlarged globes
Kantarci Kindred 1: Patient
    IV-4 (Kantarci and others, 2007)		 F NND + − + + N/A Large prominent
    eyes		 +
Kantarci Kindred 1: Patient
    IV-5(sib of IV-4) (Kantarci and others, 2007)		 F 6 years − − + + + + + + + N/A Macrocephaly, large
    prominent eyes, retinal
    dystrophy		 c.7564T>C/ c.7564T>C
(p.Y2522H)
Kantarci Kindred 1: Patient
    IV-6 (sib of IV-4 and 5) (Kantarci and others, 2007)		 F 3 years + + + + − + + + + N/A Megalocornea, retinal
    dystrophy, scoliosis, rib and
    vertebral anomalies		 c.7564T>C/ c.7564T>C
(p.Y2522H)
Kantarci Kindred 1: Patient
    IV-2 (cousin of IV-4,5,6) (Kantarci and others, 2007)		 M 12 years − + + + − + + + + c.7564T>C/ c.7564T>C
(p.Y2522H)
Kantarci Kindred 1: Patient
    IV-3 (sib of IV-2) (Kantarci and others, 2007)		 M 6 years − + + + − + + + + Albinism c.7564T>C/ c.7564T>C
(p.Y2522H)
Kantarci Kindred 6: Patient 1
    (Kantarci and others, 2007)		 F 5 months + + + + + + + c.9358_
9359delAG /
c.9358_
9359delAG (p.S3120WfsX26)		 +
Kantarci Kindred 6: Patient 2
    (sib of Patient1)
(Kantarci and others, 2007)		 F 7 years − − + + + + + Heart murmur, mild
    interdigital webbing		 c.9358_
9359delAG /
c.9358_9359delAG
(p.S3120WfsX26)		 −
Kantarci (Kantarci and others, 2008) M 9 years − + + + + + + + + + + R cataract, L lenticonus, rod
    and cone retinal
    dysfunction		 Paternal
UPD c.11469_
11472delTTTG /
c.11469_		 −
c.11469_
11472delTTTG
(p.Cys3823Tr-
pfsX159)
Total 15/27 15/27 26/26 17/17 7/17 17/18 19/20 9/14 18/18 13/15 12/12 5/15a
a

Presence or absence of consanguinity is shown for the index case of each family.

+, Feature present; −, feature absent; ACC, agenesis of corpus callosum; AF, anterior fontanelle; CDH, congenital diaphragmatic hernia; CLP, cleft lip + palate; DB/FOAR, Donnai-Barrow and Facio-oculo-acoustico-renal; DORV, double outlet right ventricle; F, female; FTT, failure to thrive; HL, hearing loss; L, left; M, male; N/A, sample not available; NND, neonatal death; OFC, occipofrontal circumference (measured in centimeters); PDA, patient ductus arteriosus; R, right; SS, short stature; Unk, unknown; UPD, uniparental disomy; VSD, ventriculoseptal defect.