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Table 1 Summary of the radiological features associated with OTX2 mutations reported in literature

From: New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

Reference No. of patients Genetic mutation(s) Proteic mutation(s) MRI findings
Brain (No. of pts) Pituitary gland (No. of pts) Eyeball (No. of pts) Optic nerve (No. of pts) Chiasm (No. of pts) Posterior fossa (No. of pts)
Bennett et al., 1991
(autopsy findings)
1 WGDel
14(q22-q23)
  Geniculate bodies absent AAL
APL
bAO bA Absent Small cerebellum
Elliott et al., 1993 1 WGDel
14(q22.1-q22.3)
  n.a. n.a. bAO n.a. n.a. n.a.
Lemyre et al., 1998 1 WGDel
14(q22.1-q23.2)
  Cortical atrophy HAL
HPL
bAO bA Absent n.a.
Ragge et al., 2005 9 c.81delC S28PfsX23 n.a. n.a bMO bH n.a. n.a.
c.117_118delCC R40GfsX47 Anterior commissure thin Normal bAO bH Thin n.a.
c.265C > G R89G Normal Normal bMO bA Absent Normal
c.295C > T Q99X Hippocampal malformation, hydrocephalus n.a. bAO, bilateral remnants bA Absent n.a.
c.397C > A P133T n.a. n.a. bMO, Normal Normal n.a.
c.400C > G P134A n.a. n.a. mAO n.a. n.a. n.a.
c.464insGC S156LfsX23 Hippocampal malformation Normal mAO, mMO mA, mH n.a. n.a.
c.537 T > A Y179X n.a. n.a. bMO n.a. n.a. n.a.
c.537 T > A Y179X n.a. Normal bMO bH Thin n.a.
Nolen et al., 2006 1 WGDel Breakpoints:
50,660,000–50,664,500
60,323,200–60,326,200
(9.6 Mb)
  Ventriculomegaly, small corpus callosum, global reduction of white matter AAL
EPL
bAO bA Absent n.a.
Bakrania et al., 2008 2 WGDel
14(q22.3-q23.2)
  Lateral ventricles prominent
Partial agenesis of corpus callosum
Abnormal bAO bA Absent Hypoplastic vermis
14(q22.2-q23.1)   Lack of white matter Abnormal bAO bA Absent Hypoplastic vermis
Dateki et al., 2008 1 c.402_403incC S135LfsX2 Normal Normal bAO bH n.a. Normal
Diaczok et al., 2008 2 c.674A > G N225S Normal HAL
EPL
n.a. n.a. n.a. Normal
c.674A > G N225S n.a. HAL n.a. n.a. n.a. n.a.
Wyatt et al., 2008 8 c.93C > G Y31X n.a. n.a. mMO n.a. n.a. n.a.
c.106dupC R36PfsX52 n.a. n.a. mMO n.a. n.a. n.a.
c.106dupC R36PfsX52 n.a. n.a. mAO n.a. n.a. n.a.
c.289C > T Q97X n.a. n.a. bMO n.a. n.a. n.a.
c.289C > T Q97X n.a. n.a. Normal (coloboma) n.a. n.a. n.a.
c.371_372del AG S125WfsX11 n.a. n.a. bAO n.a. n.a. n.a.
WGDel Breakpoints:
53758044–56,834,649
(3.07 Mb)
  n.a. n.a. bMO n.a. n.a. n.a.
56,268,037–57,541,514
(1.28 Mb)
  n.a. n.a. bAO n.a. n.a. n.a.
Henderson et al., 2009 1 c.413C > G S138X Normal n.a. Normal (Leber’s congenital amaurosis) Normal Normal Normal
Tajima et al.,2009 1 c.405_406insCT S136LfsX43 Normal HAL
EPL
bAO bA Absent Chiari malformation
Ashkenazi-Hoffnung a et al., 2010 1 c.270A > T R90S Normal HAL
EPL
invisible stalk
mAO n.a. n.a. Normal
Dateki et al., 2010 4 c.214_217delGC ACinsCA A72HfsX15 Normal n.a. bMO n.a. n.a. n.a.
c.221_236del16 K74SfsX30 Normal HAL, EPL mMO, mAO n.a. n.a. Normal
c.562G > T G188X Normal HAL, EPL bMO n.a. n.a. Normal
c.562G > T G188X Normal n.a. bMO n.a. n.a. Normal
Dateki et al., 2010 1 WGDel Breakpoints:
56,006,531-8,867,091
(2.9 Mb)
  Normal HAL mMO, mAO n.a. n.a. Normal
Schilter et al., 2011 5 c.136dupA T46NfsX42 Normal n.a. bMO bH n.a. Normal
c.136dupA T46NfsX42 n.a. n.a. bMO bH n.a. n.a.
c.313C > T Q105X Normal Normal bAO bA Absent Normal
c.456_457 delGA insAT W152X Normal n.a. mMO, mAO bH n.a. Normal
c.556_557 insTATA S186IfsX2 Normal HAL, EPL bMO bH n.a. Normal
Chassaing et al., 2012 Family A (7) c.292delC Q98NfsX11 n.a. n.a. MO/AO (7) n.a. n.a. n.a.
Sporadic (1) c.106delC R36GfsX15 n.a. n.a. n.a. n.a. n.a. n.a.
Gorbenko Del Blanco et al., 2012 1 c.401C > G P134R n.a. EPL invisible stalk n.a. mH n.a. n.a.
You et al., 2012 3 c.203G > C R68P Normal Normal mMO mAO mH mA n.a. Normal
c.203G > C R68P Normal Normal mMO mH n.a. Normal
c.203G > C R68P Normal Normal mMO mH n.a. Normal
Chassaing et al., 2013 5 c.(?_-30)_(*220_?)del   Ventriculomegaly and cortical dysplasia Normal bAO n.a. n.a. Vermian heterotopia
c.(?_-30)_(*220_?)del   Normal Normal bMO and coloboma n.a. n.a. Normal
c.289C > T R97* Normal Normal mAO n.a. n.a. Normal
c.289C > T R97* Normal Normal mAO n.a. n.a. Normal
c.316delC Q106Nfs*11 Normal Normal bAO n.a. n.a. Normal
Patat et al., 20132 1 c.289C > T R97* Normal AAL
APL
bMO bA Absent Normal
Takenouchi et al., 2013 1 WGDel Breakpoints:
52830547–59 031284
(6.2 Mb)
  Progressive white matter loss at 21 months n.a. bMO n.a. n.a. n.a.
Brisset et al., 2014 3 WGDel
Breakpoints:
50293781–59,068,634
(8.8 Mb)
  n.a. AAL
EPL
bAO bA Absent n.a.
54,251,697–63,177,878
(8.9 Mb)
  n.a. AAL bAO bA Absent  
54,431,790–60,167,626
(5.8 Mb)
  n.a. AAL bAO bA Absent n.a.
Deml et al., 2016 1 c.651delC T218Hfs*76 Normal n.a. bAO Present Present Normal
Latypova et al., 2016 1 WGDel Breakpoints:
57166582–57,220,886
57,340,595–57,383,929
(120 Kb)
  n.a. n.a. Normal Normal n.a. n.a.
Lonero et al., 2016 1 c.402del S135Lfs*43 Normal EPL mMO mH n.a. Normal
Shimada et al., 2016 1 c.266G > C R89P Normal (lack of internal carotid artery) HAL
APL
bMO n.a. n.a. Normal
  1. WGDel whole gene deletion, mMO monolateral microphthalmia, mAO monolateral anophthalmia, bMO bilateral microphthalmia, bAO bilateral anophthalmia, mH monolateral hypoplasia, mA monolateral aplasia, bH bilateral hypoplasia, bA bilateral aplasia, AAL absent anterior lobe, APL absent posterior lobe, HAL hypoplastic anterior lobe, HPL hypoplastic posterior lobe, EPL ectopic posterior lobe, n.a. not available
  2. *translation termination codon