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

Pichiecchio, Anna; Vitale, Giovanni; Caporali, Camilla; Parazzini, Cecilia; Milani, Donatella; Recalcati, Maria Paola; D’Amico, Laura; Signorini, Sabrina; Balottin, Umberto; Bastianello, Stefano

doi:10.1186/s12920-018-0405-3

BMC Medical Genomics

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
Reference	No. of patients	Genetic mutation(s)	Proteic mutation(s)	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
Bakrania et al., 2008	2	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
Diaczok et al., 2008	2	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.
Chassaing et al., 2012	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

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
*translation termination codon

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