Publications by authors named "Anna M Rose"

21 Publications

  • Page 1 of 1

Anti-neutrophil cytoplasmic antibody-positive vasculitis secondary to therapeutic levamisole.

Authors:
Anna M Rose

Rheumatology (Oxford) 2020 Mar 4. Epub 2020 Mar 4.

Medical Sciences Division, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1093/rheumatology/keaa087DOI Listing
March 2020

Detection of mutations in SF3B1, EIF1AX and GNAQ in primary orbital melanoma by candidate gene analysis.

BMC Cancer 2018 Dec 17;18(1):1262. Epub 2018 Dec 17.

Orbital Service, Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK.

Background: Ocular melanoma is a rare but often deadly malignancy that arises in the uvea (commonest primary site), conjunctiva or the orbit. Primary orbital melanoma (POM) is exceedingly rare, with approximately 60 cases reported to date. Despite recent advances in our understanding of the genetics of primary uveal and conjunctival melanomas, this information is lacking for POM.

Methods: DNA was extracted from 12 POM tissues, with matched germline DNA (where available). MLPA was conducted to detect chromosomal alterations and Sanger sequencing used to identify point mutations in candidate melanoma driver genes (BRAF, NRAS, KRAS, GNA11, GNAQ), and other genes implicated in melanoma prognosis (EIF1AX, SF3B1). Immunohistochemistry was performed to analyse BAP1 nuclear expression.

Results: MLPA detected copy number alterations in chromosomes 1p, 3, 6 and 8. Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma. A recurrent mutation in SF3B1 (p.R625H) was observed in indolent, but not aggressive, tumours; a mutation in EIF1AX (p.N4S) was detected in one patient with non-aggressive disease.

Conclusions: EIF1AX and SF3B1 mutations appear have a role in determining the clinical course of POM and detection of these changes could have clinical significance. Further in depth analysis of this rare group using differing 'omic technologies will provide novel insights into tumour pathogenesis.
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http://dx.doi.org/10.1186/s12885-018-5190-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297940PMC
December 2018

Cancer and the junkyard chromosome: how repeat DNA sequence on chromosome 19 influences risk of malignant disease.

Authors:
Anna M Rose

Oncotarget 2018 Aug 10;9(62):31942-31944. Epub 2018 Aug 10.

MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.18632/oncotarget.25873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112826PMC
August 2018

Primary Orbital Melanoma: Presentation, Treatment, and Long-term Outcomes for 13 Patients.

Front Oncol 2017 18;7:316. Epub 2017 Dec 18.

Orbital Service, Moorfields Eye Hospital, London, United Kingdom.

Background: Periocular melanoma is a rare but often deadly malignancy that arises in the uvea (commonest origin), conjunctiva or orbit (rarest primary site). Melanoma accounts for 5-10% of metastatic/secondary orbital malignancies, but only a tiny proportion of primary orbital neoplasia. Primary orbital melanoma (POM) is exceedingly rare, with approximately 50 cases reported to date.

Methods: All patients seen in the orbital unit at a tertiary referral hospital (1991-2016) with a biopsy-proven diagnosis of POM were identified from a diagnostic database and were studied. The case notes, imaging, surgical approach, and histology were reviewed.

Results: Thirteen patients (five male; 38%) presented with isolated malignant melanoma of the orbit, for which no other primary site was identified at presentation or during an average follow-up of 44 months (median 22; range 0-13 years). The patients presented between the ages of 40 and 84 years (mean 55.5; median 48 years) and typically gave a short history of rapidly increasing proptosis and eyelid swelling. On the basis of history, a malignant lesion was suspected in most patients and all underwent incisional biopsy, with debulking of the mass in 10 (77%) patients, and skin-sparing exenteration in 3/13 (23%). Ten patients underwent orbital radiotherapy and the survival to date ranged from 9 months to 14 years (mean 55 months; median 23 months); two patients received solely palliative care for widespread disease and one patient refused orbital radiotherapy. Five of the 13 (38%) patients died from the disease.

Discussion: POM is a very rare malignancy, but clinical analysis of this cohort gives insight into disease presentation and prognosis. The tumor typically presents with a rapidly progressive, well-defined mass that is, in some cases, amenable to macroscopically intact excision. Unusual for malignant melanoma, some of these patients can show an unusually long period of quiescent disease after surgical debulking and radiotherapy.
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http://dx.doi.org/10.3389/fonc.2017.00316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5741819PMC
December 2017

Presentation, Treatment, and Prognosis of Secondary Melanoma within the Orbit.

Front Oncol 2017 23;7:125. Epub 2017 Jun 23.

UCL Institute of Ophthalmology, London, United Kingdom.

Background: Ocular melanoma is a rare but often deadly malignancy that arises in the uvea, conjunctiva, or orbit. Uveal melanoma is the most common type, with conjunctival melanoma being the second most frequently observed. Melanoma accounts for 5-10% of metastatic or secondary orbital malignancies, but only a minute proportion of primary orbital neoplasia. The aim of this study was to characterize the clinical presentation, treatment, and prognosis in patients presenting with melanoma metastatic to, or secondary within, the orbit.

Methods: A retrospective cohort study of patients presenting to a tertiary referral orbital unit from 1982 to 2016 was performed. Eighty-nine patients with biopsy-proven diagnosis of melanoma within the orbit were included in the study. The clinical notes, radiological imaging, histology, surgical notes, and outcome data for the patients were reviewed. The main outcome measures of interest were the interval between primary malignant melanoma and orbital presentation, survival after orbital presentation, and clinical parameters (such as gender, age at presentation, and treatment approach).

Results: The commonest primary source of tumor was choroidal melanoma, with conjunctival and cutaneous melanomas being relatively common; eyelid and naso-sinus tumors occurred in a few cases. The mean age at presentation with orbital disease was 65 years (31-97 years). The interval between primary malignancy and orbital disease (either local spread/recurrence or true metastatic disease) showed wide variability, with almost one-third of patients having orbital disease at the time of primary diagnosis, but others presenting many years later; indeed, the longest orbital disease-free interval was over 34 years. Twenty-three patients were considered to have had late orbital metastases-that is, at more than 36 months after primary tumor. The median survival following presentation with orbital involvement was 24 months. Patients with tumors of cutaneous origin had worst survival, whereas those with conjunctival tumors had the best prognosis.

Conclusion: A high index of suspicion for orbital recurrence should be maintained in any patient with prior history of melanoma, however distant the primary tumor is in site or time. Furthermore, giving a prognosis for orbital melanoma remains problematic due to highly variable survival, and further investigation will be necessary to understand the likely genetic basis of this phenomenon.
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http://dx.doi.org/10.3389/fonc.2017.00125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481311PMC
June 2017

Gene of the month: .

J Clin Pathol 2017 Sep 29;70(9):729-732. Epub 2017 Jun 29.

Department of Genetics, UCL Institute of Ophthalmology, London, UK.

Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31 is a ubiquitously expressed splicing factor, which aids in the assembly of the macromolecular spliceosome. Mutations in cause autosomal dominant retinitis pigmentosa (adRP), a form of retinal degeneration that causes progressive visual impairment. Interestingly, mutations in are non-penetrant, with some mutation carriers being phenotypically unaffected. In this review, the gene organisation, protein structure and biological function of PRPF31 are discussed, and the mechanisms of non-penetrance in -associated adRP are discussed.
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http://dx.doi.org/10.1136/jclinpath-2016-203971DOI Listing
September 2017

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Sci Rep 2016 Jan 19;6:19450. Epub 2016 Jan 19.

UCL Institute of Ophthalmology, University College London, London, EC1V 9EL, UK.

PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic. We identify the major molecular cause of this incomplete penetrance through three cardinal features: (1) there is population variation in the number (3 or 4) of a minisatellite repeat element (MSR1) adjacent to the PRPF31 core promoter; (2) in vitro, 3-copies of the MSR1 element can repress gene transcription by 50 to 115-fold; (3) the higher-expressing 4-copy allele is not observed among symptomatic PRPF31 mutation carriers and correlates with the rate of asymptomatic carriers in different populations. Thus, a linked transcriptional modifier decreases PRPF31 gene expression that leads to haploinsufficiency. This result, taken with other identified risk alleles, allows precise genetic counseling for the first time. We also demonstrate that across the human genome, the presence of MSR1 repeats in the promoters or first introns of genes is associated with greater population variability in gene expression indicating that copy number variation of MSR1s is a generic controller of gene expression and promises to provide new insights into our understanding of gene expression regulation.
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http://dx.doi.org/10.1038/srep19450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725990PMC
January 2016

Late presentation to hospital services necessitates greater community-based care for malnourished children.

Authors:
Anna M Rose

J Trop Pediatr 2015 Feb 10;61(1):61-4. Epub 2014 Nov 10.

UCL Medical School, London, WC1E 6BT, UK

The records for all paediatric deaths (ages 0-14) in a large hospital in urban Southern Africa were examined for a 3 year period (January 2007 to February 2010), to explore the role of malnutrition in paediatric mortality in this region. A total of 516 records were obtained, demonstrating that malnutrition was the primary or secondary cause of death in 35% of cases. It was also found that children presented very late to hospital services, with an average length of final admission of only 0-3 days. The rate of human immunodeficiency virus (HIV) infection was found to be very high, although low testing rates limits the analysis of these figures. Malnutrition remains an important factor in paediatric mortality in southern Africa, contributing to approximately 35% of deaths. Furthermore, fatal cases presented very late to hospital services. In light of this, increased community-based therapy would be beneficial. Implementation of universal HIV testing would also be valuable.
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http://dx.doi.org/10.1093/tropej/fmu059DOI Listing
February 2015

Staphylococcus lugdunensis septic arthritis and epidural abscess in a patient with rheumatoid arthritis receiving anti-tumour necrosis factor therapy.

Rheumatology (Oxford) 2014 Dec 8;53(12):2231. Epub 2014 Sep 8.

Department of Clinical Pharmacology and Department of Clinical Microbiology, University College Hospital, London, UK.

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http://dx.doi.org/10.1093/rheumatology/keu365DOI Listing
December 2014

Aetiology and management of malnutrition in HIV-positive children.

Arch Dis Child 2014 Jun 9;99(6):546-51. Epub 2014 Jan 9.

Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, King's Health Partners, London, UK.

Worldwide, more than 3 million children are infected with HIV and, without treatment, mortality among these children is extremely high. Both acute and chronic malnutrition are major problems for HIV-positive children living in resource-limited settings. Malnutrition on a background of HIV represents a separate clinical entity, with unique medical and social aetiological factors. Children with HIV have a higher daily calorie requirement than HIV-negative peers and also a higher requirement for micronutrients; furthermore, coinfection and chronic diarrhoea due to HIV enteropathy play a major role in HIV-associated malnutrition. Contributory factors include late presentation to medical services, unavailability of antiretroviral therapy, other issues surrounding healthcare provision and food insecurity in HIV-positive households. Treatment protocols for malnutrition have been greatly improved, yet there remains a discrepancy in mortality between HIV-positive and HIV-negative children. In this review, the aetiology, prevention and treatment of malnutrition in HIV-positive children are examined, with particular focus on resource-limited settings where this problem is most prevalent.
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http://dx.doi.org/10.1136/archdischild-2012-303348DOI Listing
June 2014

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".

Ann Hum Genet 2014 Jan 14;78(1):62-71. Epub 2013 Oct 14.

Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom.

Mutations in PRPF31 are responsible for autosomal dominant retinitis pigmentosa (adRP, RP11 form) and affected families show nonpenetrance. Differential expression of the wildtype PRPF31 allele is responsible for this phenomenon: coinheritance of a mutation and a higher expressing wildtype allele provide protection against development of disease. It has been suggested that a major modulating factor lies in close proximity to the wildtype PRPF31 gene on Chromosome 19, implying that a cis-acting factor directly alters PRPF31 expression. Variable expression of CNOT3 is one determinant of PRPF31 expression. This study explored the relationship between CNOT3 (a trans-acting factor) and its paradoxical cis-acting nature in relation to RP11. Linkage analysis on Chromosome 19 was performed in mutation-carrying families, and the inheritance of the wildtype PRPF31 allele in symptomatic-asymptomatic sibships was assessed-confirming that differential inheritance of wildtype chromosome 19q13 determines the clinical phenotype (P < 2.6 × 10(-7) ). A theoretical model was constructed that explains the apparent conflict between the linkage data and the recent demonstration that a trans-acting factor (CNOT3) is a major nonpenetrance factor: we propose that this apparently cis-acting effect arises due to the intimate linkage of CNOT3 and PRPF31 on Chromosome 19q13-a novel mechanism that we have termed "linked trans-acting epistasis."
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http://dx.doi.org/10.1111/ahg.12042DOI Listing
January 2014

A Study into the Evolutionary Divergence of the Core Promoter Elements of and

J Mol Genet Med 2013 Aug;7(2)

Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom.

Mutations in have been implicated in retinitis pigmentosa, a blinding disease caused by degeneration of rod photoreceptors. The disease mechanism in the majority of cases is haploinsufficiency. Crucially, attempts at generation of animal models of disease have proved unsuccessful, yielding animals with a visual phenotype that does not mirror human disease. This suggests that, in these animals, the transcriptional regulation of is different to humans and compared to other species. Study of the evolution of the core promoter has important implications for our understanding of human disease, as disease phenotype is modified by differentially expressed alleles in the population. lies in a head-to-head arrangement with , a gene involved in cellular apoptosis. The two genes were shown to share common regulatory elements in the human genome. In this study, the core promoters of and were characterised by dual-luciferase reporter assay using genomic DNA from the green monkey, domestic dog and house mouse. It was found that the core promoters were conserved between human and monkey. In dog, the core promoter was conserved, but different gene architecture meant the gene was controlled by a long-range promoter lying some 2000bp from the transcription start site. There was very low level of conservation (<20%) of the 5' region between mouse and human. It was shown that mouse populations did not show variable expression levels, revealing a potential explanation for the lack of phenotype observed in the knock-out mouse model.
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http://dx.doi.org/10.4172/1747-0862.1000067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341892PMC
August 2013

A rare case of orbital haemangiopericytoma arising in childhood.

Orbit 2013 Dec 29;32(6):384-6. Epub 2013 Jul 29.

Department of Genetics, UCL Institute of Ophthalmology, London , EC1V 9EL , United Kingdom .

Haemangiopericytoma (HPC) is a rare soft tissue tumour of fibroblastic origin and is part of the solitary fibrous tumour spectrum. The tumour is generally considered to be benign, but can behave clinically as if sarcomatous -- with relentless infiltrative local growth. HPC generally presents in adulthood (median age 45 years for orbital disease) and is equally frequent in both sexes. HPC can arise in any site in the body and presents as a slowly growing, painless mass. We report a case of a 20 year old African male seen at Kikuyu Eye Unit, Kenya, with a 12 year history of a gradually enlarging, painless orbital mass. The patient underwent skin-sparing orbital exenteration with complete tumour excision; histology confirmed diagnosis of HPC.
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http://dx.doi.org/10.3109/01676830.2013.815226DOI Listing
December 2013

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

PLoS Genet 2012 8;8(11):e1003040. Epub 2012 Nov 8.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptomatic carriers are protected from the disease by a higher than average expression of the PRPF31 allele that is not mutated, mainly through the action of an unknown modifier gene mapping to chromosome 19q13.4. We investigated a large family with adRP segregating an 11-bp deletion in PRPF31. The analysis of cell lines derived from asymptomatic and affected individuals revealed that the expression of only one gene among a number of candidates within the 19q13.4 interval significantly correlated with that of PRPF31, both at the mRNA and protein levels, and according to an inverse relationship. This gene was CNOT3, encoding a subunit of the Ccr4-not transcription complex. In cultured cells, siRNA-mediated silencing of CNOT3 provoked an increase in PRPF31 expression, confirming a repressive nature of CNOT3 on PRPF31. Furthermore, chromatin immunoprecipitation revealed that CNOT3 directly binds to a specific PRPF31 promoter sequence, while next-generation sequencing of the CNOT3 genomic region indicated that its variable expression is associated with a common intronic SNP. In conclusion, we identify CNOT3 as the main modifier gene determining penetrance of PRPF31 mutations, via a mechanism of transcriptional repression. In asymptomatic carriers CNOT3 is expressed at low levels, allowing higher amounts of wild-type PRPF31 transcripts to be produced and preventing manifestation of retinal degeneration.
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http://dx.doi.org/10.1371/journal.pgen.1003040DOI Listing
May 2013

Epistasis and immunity: the role of genetic interactions in autoimmune diseases.

Immunology 2012 Oct;137(2):131-8

Department of Genetics, UCL Institute of Ophthalmology, London, UK.

Autoimmune disorders are a complex and varied group of diseases that are caused by breakdown of self-tolerance. The aetiology of autoimmunity is multi-factorial, with both environmental triggers and genetically determined risk factors. In recent years, it has been increasingly recognized that genetic risk factors do not act in isolation, but rather the combination of individual additive effects, gene-gene interactions and gene-environment interactions determine overall risk of autoimmunity. The importance of gene-gene interactions, or epistasis, has been recently brought into focus, with research demonstrating that many autoimmune diseases, including rheumatic arthritis, autoimmune glomerulonephritis, systemic lupus erythematosus and multiple sclerosis, are influenced by epistatic interactions. This review sets out to examine the basic mechanisms of epistasis, how epistasis influences the immune system and the role of epistasis in two major autoimmune conditions, systemic lupus erythematosus and multiple sclerosis.
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http://dx.doi.org/10.1111/j.1365-2567.2012.03623.xDOI Listing
October 2012

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Hum Mol Genet 2012 Sep 20;21(18):4126-37. Epub 2012 Jun 20.

Department of Genetics, UCL Institute of Ophthalmology, London EC1V 9EL, UK.

PRPF31, a gene located at chromosome 19q13.4, encodes the ubiquitous splicing factor PRPF31. The gene lies in a head-to-head arrangement with TFPT, a poorly characterized gene with a role in cellular apoptosis. Mutations in PRPF31 have been implicated in autosomal dominant retinitis pigmentosa (adRP), a frequent and important cause of blindness worldwide. Disease associated with PRPF31 mutations is unusual, in that there is often non-penetrance of the disease phenotype in affected families, caused by differential expression of PRPF31. This study aimed to characterize the basic promoter elements of PRPF31 and TFPT. Luciferase reporter constructs were made, using genomic DNA from an asymptomatic individual with a heterozygous deletion of the entire putative promoter region. Fragments were tested by the dual-luciferase reporter assay in HeLa and RPE-1 cell lines. A comparison was made between the promoter regions of symptomatic and asymptomatic mutation-carrying individuals. A patient (CAN493) with adRP was identified, harbouring a regulatory region mutation; both alleles were assayed by the dual-luciferase reporter assay. Luciferase assays led to the identification of core promoters for both PRPF31 and TFPT; despite their shared gene architecture, the two genes appear to be controlled by slightly different regulatory regions. One functional polymorphism was identified in the PRPF31 promoter that increased transcriptional activation. The change was not, however, consistent with the observed symptomatic-asymptomatic phenotypes in a family affected by PRPF31-adRP. Analysis of the mutant promoter fragment from CAN493 showed a >50% reduction in promoter activity, suggesting a disease mechanism of functional haploinsufficiency-the first report of this disease mechanism in adRP.
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http://dx.doi.org/10.1093/hmg/dds242DOI Listing
September 2012

Epistasis: the key to understanding immunological disease?

Eur J Immunol 2011 Aug;41(8):2152-4

Department of Genetics, UCL Institute of Ophthalmology, London, UK.

Epistasis is fast becoming central to the understanding of the complex relationship between genotype and phenotype observed in autoimmune disease. A study in this issue of the European Journal of Immunology uses in-depth analysis of genome-wide mapping by polymorphic microsatellite markers to shed light on the genomic control of autoimmunity and self-tolerance.
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http://dx.doi.org/10.1002/eji.201141811DOI Listing
August 2011

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2011 Aug 22;52(9):6597-603. Epub 2011 Aug 22.

Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom.

PURPOSE. This study sets out to identify novel mutations in PRPF31 in a cohort of autosomal dominant retinitis pigmentosa (adRP) patients with a history of nonpenetrance in the family. METHODS. Twenty-one patients with history of nonpenetrant autosomal dominant retinitis pigmentosa were selected; all underwent full ophthalmic examination. Multiplex ligation-dependent probe analysis (MLPA) was performed and, where a deletion was found, further family members were recruited. An individual suspected to harbor a large deletion was used as a positive control. Analysis of single nucleotide polymorphisms in the upstream region was used to determine the extent of the deletion, and the breakpoint was then characterized by PCR and sequencing. RESULTS. In one family, multiplex ligation-dependent probe analysis revealed a novel large deletion in 19q13.4 encompassing exons 1 to 13 of the PRPF31 gene. The mutation was characterized as a deletion of 112 kilobase (kb), encompassing over 90% of PRPF31 and five upstream genes: TFPT, OSCAR, NDUFA3, TARM-1, and VSTM-1. The breakpoint in the positive control family was also characterized. The mechanism of deletion in both families was Alu-mediated nonallelic homologous recombination. CONCLUSIONS. This study describes two large deletions, one in a previously reported family and one in a new family: the latter represents the largest deletion yet described on chromosome 19 and the first report of the involvement of VSTM-1. Remarkably, heterozygous deletion of this large region (encompassing six genes) produces little or no other clinical disease besides retinitis pigmentosa.
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http://dx.doi.org/10.1167/iovs.11-7861DOI Listing
August 2011

Alveolar soft-part sarcoma of the orbit.

Afr J Paediatr Surg 2011 Jan-Apr;8(1):82-4

Adnexal Service, Moorfields Eye Hospital, London, UK.

Alveolar soft-part sarcoma (ASPS) is a rare soft tissue tumour of uncertain cellular origin. It accounts for only 1% of all sarcomas, which themselves represent only a small proportion of human tumours. ASPS can arise in any soft tissue of the body, but there is an unexplained predilection for the right side. The most common site for paediatric ASPS is in the head and neck region, although involvement of the orbit is rare, with fewer than 30 reported cases. A case of a 5-year-old Kenyan boy with left-sided orbital ASPS is reported and the difficulties of diagnosing rare tumours are discussed.
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http://dx.doi.org/10.4103/0189-6725.78936DOI Listing
September 2011
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