Patients with mutation
|
I-10
|
LE-401-10
|
c.245A>T
|
3
|
p.(Tyr82Phe)
|
de novo
|
−7.0
|
Chorioretinitis
|
Feet
|
Severe
|
Severe sensorineural hearing loss, proteinuria, upslanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip and pointed chin
|
-
|
II-2
|
LE-09-2
|
c.308+1G>T
|
3
|
p.(Thr71Argfs*8)
|
AD
|
−4.0
|
Normal electroretinography but discrete narrowing of blood vessels
|
-
|
-
|
-
|
-
|
II-10
|
LE-09-10
|
c.308+1G>T
|
3
|
p.(Thr71Argfs*8)¶
|
AD
|
−3.0
|
Retinal dystrophy
|
Mild
|
Moderate
|
Scoliosis
|
-
|
III-10
|
LE-448-10
|
c.436A>T
|
5
|
p.(Lys146*)
|
AD
|
−4.4
|
Bilateral persistent hyperplastic primary vitreous, bilateral retinal detachment, bilateral glaucoma and inoperable retinal detachment right eye
|
Feet
|
-
|
Lensectomy, vitrectomy right eye and long philtrum
|
-
|
IV-1
|
LE-152-1
|
c.630del
|
6
|
p.(Tyr211Ilefs*4)
|
AD
|
−2.5
|
-
|
+
|
-
|
-
|
-
|
IV-10
|
LE-152-10
|
c.630del
|
6
|
p.(Tyr211Ilefs*4)
|
AD
|
−5.9
|
Retinal dystrophy
|
Mild
|
Moderate
|
Facial dysmorphism
|
-
|
IV-11
|
LE-152-11
|
c.630del
|
6
|
p.(Tyr211Ilefs*4)
|
AD
|
−5.9
|
Unknown, wears glasses
|
-
|
Moderate
|
Facial dysmorphism
|
-
|
V-1
|
LE-114-1
|
c.790-3A>G
|
8
|
p.(Val264Argfs*26)
|
AD
|
Within normal limits
|
-
|
-
|
-
|
-
|
-
|
V-11
|
LE-114-11
|
c.790-3A>G
|
8
|
p.(Val264Argfs*26)
|
AD
|
−2.2
|
Microphthalmos
|
-
|
-
|
-
|
-
|
V-12
|
LE-114-12
|
c.790-3A>G
|
8
|
p.(Val264Argfs*26)¶
|
AD
|
−2.9
|
Bilateral falciform retinal folds, microphthalmos, visual deficit and glaucoma
|
Feet as a child
|
Moderate
|
Sloping forehead
|
Young ID., et al., 1987
|
V-100
|
LE-114-100
|
c.790-3A>G
|
8
|
p.(Val264Argfs*26)
|
AD
|
−6.6
|
Falciform retinal folds
|
Hands and feet
|
Moderate
|
Clinodactyly and facial dysmorphism
|
-
|
V-101
|
LE-114-101
|
c.790-3A>G
|
8
|
p.(Val264Argfs*26)
|
AD
|
−2.3
|
-
|
-
|
Mild
|
Left Club foot and dyslexia
|
-
|
VI-10
|
LE-103-10
|
c.1985T>A
|
15
|
p.(Leu662*)
|
AD
|
−5.0
|
Bilateral retinal degeneration
|
Feet
|
Mild
|
-
|
-
|
VI-2
|
LE-103-2
|
c.1985T>A
|
15
|
p.(Leu662*)
|
AD
|
-
|
-
|
Mild
|
Mild
|
-
|
-
|
VII-10
|
LE-411-10
|
c.2005del
|
16
|
p.(Glu669Lysfs*7)
|
de novo
|
−3v8
|
Retinal dystrophy
|
-
|
Moderate
|
Pachygyria
|
-
|
VIII-10
|
LE-125-10
|
c.2160+1G>A
|
16
|
Altered Splicing
|
de novo
|
−9.2
|
+
|
+
|
Moderate
|
Constipation and facial dysmorphism
|
-
|
IX-10
|
LE-406-10
|
c.2244_2247dup
|
17
|
p.(Val750*)
|
Sporadic
|
−3.0
|
Persistent hyperplastic primary vitreous posterior and retinal atrophy
|
Feet
|
Moderate
|
Facial dysmorphism
|
-
|
X-10
|
LE-413-10
|
c.2304_2305del
|
18
|
p.(His768Glnfs*7)
|
de novo
|
−5.4
|
Retinal dystrophy
|
-
|
Severe
|
-
|
Ostergaard P., et al., 2012
|
XI-10
|
LE-08-10
|
c.2547+2T>C
|
18
|
Altered Splicing
|
AD
|
−7.3
|
Subtle atrophic pigment epithelial changes temporally from the optic disc on the right eye and atrophic changes prominent on the left eye
|
-
|
Moderate
|
-
|
Ostergaard P., et al., 2012
|
XI-13
|
LE-08-13
|
c.2547+2T>C
|
18
|
Altered Splicing
|
AD
|
−4.4
|
Unknown
|
-
|
Moderate
|
Nasal speech and micrognathia
|
Ostergaard P., et al., 2012
|
XI-100
|
LE-08-100
|
c.2547+2T>C
|
18
|
Altered Splicing
|
AD
|
−8.3
|
Microphthalmia, chorioretinopathy and retinal dystrophy
|
Feet
|
Moderate
|
Syndactyly, cardiopathy, pachygyria and facial dysmorphism
|
Casteels I., et al., 2001, Ostergaard P., et al., 2012
|
XI-101
|
LE-08-101
|
c.2547+2T>C
|
18
|
Altered Splicing
|
AD
|
−4.5
|
Bilateral corioretinal dystrophy
|
+
|
Moderate
|
-
|
Ostergaard P., et al., 2012
|
XI-102
|
LE-08-102
|
c.2547+2T>C
|
18
|
Altered Splicing
|
AD
|
−3.5
|
-
|
Peri-oral
|
Moderate
|
Micrognathia, full nose tip, diathema of teeth and dysplastic ears
|
Ostergaard P., et al., 2012
|
XII-10
|
LE-414-10
|
c.2723dup
|
19
|
p.(Leu909Alafs*2)
|
de novo
|
−5.5
|
Retinal dystrophy
|
+
|
Severe
|
-
|
Fryns JP., et al., 1995
|
XIII-10
|
LE-415-10
|
c.2782_2783dup
|
20
|
p.(Gln928Hisfs*13)
|
de novo
|
−3.8
|
Chorioretinal atrophy
|
-
|
Moderate
|
-
|
-
|
XIV-10
|
LE-104-10
|
c.2922G>A
|
20
|
Altered Splicing
|
de novo
|
−5.3
|
Myopic chorioretinal dysplasia
|
Hands and feet
|
-
|
Fairly broad nasal root, prominent ears and a narrow palate
|
-
|
Patients without a mutation
|
XV-10
|
LE-87-10
|
No mutation
|
-
|
-
|
Sporadic
|
−6.9
|
Bulls eye maculopathy
|
Acute oedema at birth, resolved; bilateral lymphedema persisted
|
Severe
|
Hearing loss-bilateral sensorineural and facial dysmorphism
|
-
|
XVI-10
|
LE-88-10
|
No mutation
|
-
|
-
|
Sporadic
|
−8.1
|
Bilateral Falciform retinal folds
|
Mild, feet as a child
|
Moderate
|
Epilepsy and facial dysmorphism
|
-
|
XVII-10
|
LE-90-10
|
No mutation
|
-
|
-
|
Sporadic
|
−4.6
|
-
|
+
|
-
|
Lissencephaly, coronal craniosynostosis and ADHD
|
-
|
XVIII-10
|
LE-91-10
|
No mutation
|
-
|
-
|
Sporadic
|
−3.9
|
-
|
Feet and legs
|
Mild
|
Mild hypoplastic aortic arch, secundum atrial septal defects, mild motor delay, mild speech delay, ADHD and hyperlaxity
|
-
|
XIX-10
|
LE-121-10
|
No mutation
|
-
|
-
|
Sporadic
|
−3.0
|
-
|
Legs and face
|
Moderate
|
ADHD on methylphenidate treatment, hyperlaxity, bilateral Madelung deformity and egg allergy
|
-
|
XX-10
|
LE-393-10
|
No mutation
|
-
|
-
|
Sporadic
|
−5.0
|
Blind
|
Lower limbs
|
Severe
|
Cerebral atrophy, encephalopathy, cervicofacial lymphatic malformations, chylothorax, pleural effusion, hydrops fetalis and intestinal lymphangiectasia
|
-
|
XXI-10
|
LE-412-10
|
No mutation
|
-
|
-
|
Sporadic
|
−2.1
|
-
|
Feet
|
Moderate
|
Pectus excavatum, epicanthic folds and small ears
|
-
|
XXII-10
|
LE-417-10
|
No mutation
|
-
|
-
|
Sporadic
|
−4.4
|
Retinal dystrophy
|
-
|
Servere
|
Epilepsy
|
-
|
XXIII-10
|
LE-428-10
|
No mutation
|
-
|
-
|
Sporadic
|
−10.0
|
Chorioretinal dysplasia, myopia, nystagmus horizontale ODG
|
Mild
|
Severe
|
Arterial pulmonary hypertension, atrio-ventricular complete canal, motor delay, simplified gyral pattern, autistic behavior, ADHD, small for height (−4DS) and weight (−4DS), and facial dysmorphism.
|
-
|