Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus

Rea, Gillian; McCullough, S; McNerlan, Susan E.; Craig, Brian; Morrison, Patrick J.

doi:10.1016/j.ejmg.2010.02.008

Cited by 8 publications

(8 citation statements)

References 8 publications

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“…In humans, a rare interstitial deletion in the long arm of chromosome 3 (3q22-q23 microdeletion) causes ptosis, microphthalmia, developmental delays and brain malformation, among other phenotypes (Al-Awadi et al, 1986;Alvarado et al, 1987;Martsolf and Ray, 1983;Rea et al, 2010;Zahanova et al, 2012). These symptoms bear a strong resemblance to the phenotypes observed in Rbx2cKO-Nes mice.…”

Section: Rbx2 and Human Chromosome 3 Deletionsmentioning

confidence: 99%

RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion

et al. 2018

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The laminated structure of the retina is fundamental for the organization of the synaptic circuitry that translates light input into patterns of action potentials. However, the molecular mechanisms underlying cell migration and layering of the retina are poorly understood. Here, we show that RBX2, a core component of the E3 ubiquitin ligase CRL5, is essential for retinal layering and function. RBX2 regulates the final cell position of rod bipolar cells, cone photoreceptors and Muller glia. Our data indicate that sustained RELN/DAB1 signaling, triggered by depletion of RBX2 or SOCS7 - a CRL5 substrate adaptor known to recruit DAB1 - causes rod bipolar cell misposition. Moreover, whereas SOCS7 also controls Muller glia cell lamination, it is not responsible for cone photoreceptor positioning, suggesting that RBX2, most likely through CRL5 activity, controls other signaling pathways required for proper cone localization. Furthermore, RBX2 depletion reduces the number of ribbon synapses and disrupts cone photoreceptor function. Together, these results uncover RBX2 as a crucial molecular regulator of retina morphogenesis and cone photoreceptor function.

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Section: Rbx2 and Human Chromosome 3 Deletionsmentioning

confidence: 99%

RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion

et al. 2018

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“…In Figure these seven patients with clinical diagnosis of WS and additional cases of 3q deletion, without a clinical diagnosis of WS are shown along with our case to aid in narrowing the WS critical region [Rea et al, ; Lim et al, ; Ramieri et al, ; Weber et al, ]. Patient 12 has a deletion that distally overlaps with ours, but apparently no clinical diagnosis of WS [Lim et al, ].…”

Section: Discussionmentioning

confidence: 72%

“…Two genes are present in this region, MBNL1 and TMEM14E. Pt1: Tohyama et al []; Pt2: Willemsen et al [], case1; Pt3: Willemsen et al [], case2; Pt4: Willemsen et al [], case3; Ko et al []; Pt5: Moortgat et al []; Pt6: Ferraris et al [], case1; Pt7: Ferraris et al [], case2; Pt8: present case; Pt9: Rea et al []; Pt10:Weber et al []; Pt11: Ramieri et al []; Pt12: Lim et al []. [Color figure can be viewed at wileyonlinelibrary.com].…”

Section: Discussionmentioning

confidence: 99%

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI

Bertini¹,

Orsini

Mazza

et al. 2016

American J of Med Genetics Pt A

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We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored. The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc.

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“…Remarkably, in Patient 9 array CGH showed that the FOXL2 gene was not deleted, though this patient had the classical phenotype of BPES. It was suggested that this might be the result of disruption of regulatory elements regulating FOXL2 expression [Rea et al, 2010]. Patients 15–19 are the only five previously reported patients with an overlapping deletion who do not show the clinical phenotype of BPES and, thus, are the most suitable candidates for phenotype–genotype comparison with the present three patients, though comparison of the phenotypes is also hampered due to limited description of clinical features of Patients 15–19.…”

Section: Discussionmentioning

confidence: 99%

“…Most patients with a deletion in this region have blepharophimosis–ptosis–epicanthus inversus syndrome (BPES; OMIM # 110100) due to deletion of the gene forkhead transcription factor FOXL2 ( FOXL2 ; OMIM*605597) located in 3q22.3 [Crisponi et al, 2001; De Baere et al, 2001; De Baere et al, 2003]. Patients with interstitial deletions of the long arm of chromosome 3 also have ID, microcephaly, pre‐ and postnatal growth retardation, congenital heart defects, and various skeletal anomalies [Williamson et al, 1981; Franceschini et al, 1983; Martsolf and Ray, 1983; Al‐Awadi et al, 1986; Alvarado et al, 1987; Robin et al, 1993; Wolstenholme et al, 1994; Warburg et al, 1995; Chandler et al, 1997; Slavotinek et al, 1997; Costa et al, 1998; Sudha et al, 2001; Engelen et al, 2002; de Ru et al, 2005; Rea et al, 2010].…”

Section: Introductionmentioning

confidence: 99%

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

Willemsen

Leeuw

Mercer

et al. 2010

American J of Med Genetics Pt A

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Deletions of the distal 3q22.3 region encompassing the gene forkhead transcription factor FOXL2 (FOXL2) usually result in intellectual disability (ID) and the highly recognizable blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). We encountered three patients with molecularly defined interstitial deletions distal to the FOXL2 gene. They present with remarkably similar manifestations comprising variable ID, a coarse facial appearance, including prominent nose and eyebrows, hypogonadism and skin pigmentation abnormalities, and they share an approximately 8.8 Mb overlapping 3q24q25 deletion. Interestingly, one of the present patients was described previously in a clinical report with emphasis on her clinical similarity to the Wisconsin syndrome, suggesting that Wisconsin syndrome might be caused by a (micro) deletion within the 3q24q25 region.

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Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus

Cited by 8 publications

References 8 publications

RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion

RBX2 maintains final retinal cell position in a DAB1-dependent and -independent fashion

A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI

Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

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