Table 1.
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 |
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.