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2. Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy

Author

Simona Balestrini, Matthias J. Koepp, Sonia Gandhi, Hannah M. Rickman, Gee Yen Shin, Catherine F. Houlihan, Jonny Anders-Cannon, Katri Silvennoinen, Fenglai Xiao, Sara Zagaglia, Kirsty Hudgell, Mariusz Ziomek, Paul Haimes, Adam Sampson, Annie Parker, J. Helen Cross, Rosemarie Pardington, Eleni Nastouli, Charles Swanton, Josemir W. Sander, Sanjay M. Sisodiya, Jim Aitken, Zoe Allen, Rachel Ambler, Karen Ambrose, Emma Ashton, Alida Avola, Samutheswari Balakrishnan, Caitlin Barns-Jenkins, Genevieve Barr, Sam Barrell, Souradeep Basu, Rupert Beale, Clare Beesley, Nisha Bhardwaj, Shahnaz Bibi, Ganka Bineva-Todd, Dhruva Biswas, Michael J. Blackman, Dominique Bonnet, Faye Bowker, Malgorzata Broncel, Claire Brooks, Michael D. Buck, Andrew Buckton, Timothy Budd, Alana Burrell, Louise Busby, Claudio Bussi, Simon Butterworth, Matthew Byott, Fiona Byrne, Richard Byrne, Simon Caidan, Joanna Campbell, Johnathan Canton, Ana Cardoso, Nick Carter, Luiz Carvalho, Raffaella Carzaniga, Natalie Chandler, Qu Chen, Peter Cherepanov, Laura Churchward, Graham Clark, Bobbi Clayton, Clementina Cobolli Gigli, Zena Collins, Sally Cottrell, Margaret Crawford, Laura Cubitt, Tom Cullup, Heledd Davies, Patrick Davis, Dara Davison, Vicky Dearing, Solene Debaisieux, Monica Diaz-Romero, Alison Dibbs, Jessica Diring, Paul C. Driscoll, Annalisa D'Avola, Christopher Earl, Amelia Edwards, Chris Ekin, Dimitrios Evangelopoulos, Rupert Faraway, Antony Fearns, Aaron Ferron, Efthymios Fidanis, Dan Fitz, James Fleming, Daniel Frampton, Bruno Frederico, Alessandra Gaiba, Anthony Gait, Steve Gamblin, Kathleen Gärtner, Liam Gaul, Helen M. Golding, Jacki Goldman, Robert Goldstone, Belen Gomez Dominguez, Hui Gong, Paul R. Grant, Maria Greco, Mariana Grobler, Anabel Guedan, Maximiliano G. Gutierrez, Fiona Hackett, Ross Hall, Steinar Halldorsson, Suzanne Harris, Sugera Hashim, Emine Hatipoglu, Lyn Healy, Judith Heaney, Susanne Herbst, Graeme Hewitt, Theresa Higgins, Steve Hindmarsh, Rajnika Hirani, Joshua Hope, Elizabeth Horton, Beth Hoskins, Michael Howell, Louise Howitt, Jacqueline Hoyle, Mint R. Htun, Michael Hubank, Hector Huerga Encabo, Deborah Hughes, Jane Hughes, Almaz Huseynova, Ming-Shih Hwang, Rachael Instrell, Deborah Jackson, Mariam Jamal-Hanjani, Lucy Jenkins, Ming Jiang, Mark Johnson, Leigh Jones, Nnennaya Kanu, George Kassiotis, Gavin Kelly, Louise Kiely, Anastacio King Spert Teixeira, Stuart Kirk, Svend Kjaer, Ellen Knuepfer, Nikita Komarov, Paul Kotzampaltiris, Konstantinos Kousis, Tammy Krylova, Ania Kucharska, Robyn Labrum, Catherine Lambe, Michelle Lappin, Stacey-Ann Lee, Andrew Levett, Lisa Levett, Marcel Levi, Hon Wing Liu, Sam Loughlin, Wei-Ting Lu, James I. MacRae, Akshay Madoo, Julie A. Marczak, Mimmi Martensson, Thomas Martinez, Bishara Marzook, John Matthews, Joachim M. Matz, Samuel McCall, Laura E. McCoy, Fiona McKay, Edel C. McNamara, Carlos M. Minutti, Gita Mistry, Miriam Molina-Arcas, Beatriz Montaner, Kylie Montgomery, Catherine Moore, David Moore, Anastasia Moraiti, Lucia Moreira-Teixeira, Joyita Mukherjee, Cristina Naceur-Lombardelli, Aileen Nelson, Jerome Nicod, Luke Nightingale, Stephanie Nofal, Paul Nurse, Savita Nutan, Caroline Oedekoven, Anne O'Garra, Jean D. O'Leary, Jessica Olsen, Olga O'Neill, Nicola O'Reilly, Paula Ordonez Suarez, Neil Osborne, Amar Pabari, Aleksandra Pajak, Venizelos Papayannopoulos, Stavroula M Paraskevopoulou, Namita Patel, Yogen Patel, Oana Paun, Nigel Peat, Laura Peces-Barba Castano, Ana Perez Caballero, Jimena Perez-Lloret, Magali S. Perrault, Abigail Perrin, Roy Poh, Enzo Z. Poirier, James M. Polke, Marc Pollitt, Lucia Prieto-Godino, Alize Proust, Clinda Puvirajasinghe, Christophe Queval, Vijaya Ramachandran, Abhinay Ramaprasad, Peter Ratcliffe, Laura Reed, Caetano Reis e Sousa, Kayleigh Richardson, Sophie Ridewood, Fiona Roberts, Rowenna Roberts, Angela Rodgers, Pablo Romero Clavijo, Annachiara Rosa, Alice Rossi, Chloe Roustan, Andrew Rowan, Erik Sahai, Aaron Sait, Katarzyna Sala, Emilie Sanchez, Theo Sanderson, Pierre Santucci, Fatima Sardar, Adam Sateriale, Jill A. Saunders, Chelsea Sawyer, Anja Schlott, Edina Schweighoffer, Sandra Segura-Bayona, Rajvee Shah Punatar, Maryam Shahmanesh, Joe Shaw, Mariana Silva Dos Santos, Margaux Silvestre, Matthew Singer, Daniel M. Snell, Ok-Ryul Song, Moira J. Spyer, Louisa Steel, Amy Strange, Adrienne E. Sullivan, Michele S.Y. Tan, Zoe H. Tautz-Davis, Effie Taylor, Gunes Taylor, Harriet B. Taylor, Alison Taylor-Beadling, Fernanda Teixeira Subtil, Berta Terré Torras, Patrick Toolan-Kerr, Francesca Torelli, Tea Toteva, Moritz Treeck, Hadija Trojer, Ming-Han C. Tsai, James M.A. Turner, Melanie Turner, Jernej Ule, Rachel Ulferts, Sharon P. Vanloo, Selvaraju Veeriah, Subramanian Venkatesan, Karen Vousden, Andreas Wack, Claire Walder, Philip A. Walker, Yiran Wang, Sophia Ward, Catharina Wenman, Luke Williams, Matthew J. Williams, Wai Keong Wong, Joshua Wright, Mary Wu, Lauren Wynne, Zheng Xiang, Melvyn Yap, Julian A. Zagalak, Davide Zecchin, Rachel Zillwood, Santhakumari Carthiyaniamma, Jane DeTisi, Julie Dick, Andrea Hill, Karin Kipper, Birinder Kullar, Sarah Norris, Fergus Rugg-Gunn, Rebecca Salvatierra, Gabriel Shaya, Astrid Sloan, Priyanka Singh, James Varley, Ben Whatley, and Academic Medical Center

Subjects
Male, Pediatrics, CCC, Crick COVID Consortium, SWGC, Sir William Gowers Centre, Comorbidity, Residential Facilities, Cohort Studies, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Case fatality rate, Infection control, 030212 general & internal medicine, Care Models, COVID-19, coronavirus disease 2019, Aged, 80 and over, Surveillance, Middle Aged, 3. Good health, Treatment Outcome, Neurology, UCLH, University College London Hospitals NHS Foundation Trust, PEG, percutaneous endoscopic gastrostomy, STE, St Elizabeth’s Centre, Female, medicine.symptom, PPE, personal protective equipment, Cohort study, Adult, medicine.medical_specialty, Isolation (health care), Clinical Neurology, Asymptomatic, Article, Young Adult, 03 medical and health sciences, medicine, Humans, YE, Young Epilepsy, Aged, SARS-CoV-2, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Infection Control, business.industry, SARS-CoV-2, Prevention, Vulnerable people, COVID-19, TM, The Meath, medicine.disease, Long-Term Care, CCE, Chalfont Centre for Epilepsy, United Kingdom, Long-term care, Neurology (clinical), business, 030217 neurology & neurosurgery, Contact tracing
Abstract

Highlights • We found a high asymptomatic rate in vulnerable people with epilepsy. • Enhanced surveillance allows to quickly contain outbreaks. • We report a low rate of COVID-19 morbidity and mortality in a long-term care facility. • Preventative measures allow reducing resident-to-resident and -to-caregiver transmission. • Children and young adults appear to have lower infection rates., In this cohort study, we aim to compare outcomes from coronavirus disease 2019 (COVID-19) in people with severe epilepsy and other co-morbidities living in long-term care facilities which all implemented early preventative measures, but different levels of surveillance. During 25-week observation period (16 March–6 September 2020), we included 404 residents (118 children), and 1643 caregivers. We compare strategies for infection prevention, control, and containment, and related outcomes, across four UK long-term care facilities. Strategies included early on-site enhancement of preventative and infection control measures, early identification and isolation of symptomatic cases, contact tracing, mass surveillance of asymptomatic cases and contacts. We measured infection rate among vulnerable people living in the facilities and their caregivers, with asymptomatic and symptomatic cases, including fatality rate. We report 38 individuals (17 residents) who tested severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-positive, with outbreaks amongst residents in two facilities. At Chalfont Centre for Epilepsy (CCE), 10/98 residents tested positive: two symptomatic (one died), eight asymptomatic on weekly enhanced surveillance; 2/275 caregivers tested positive: one symptomatic, one asymptomatic. At St Elizabeth’s (STE), 7/146 residents tested positive: four symptomatic (one died), one positive during hospital admission for symptoms unrelated to COVID-19, two asymptomatic on one-off testing of all 146 residents; 106/601 symptomatic caregivers were tested, 13 positive. In addition, during two cycles of systematically testing all asymptomatic carers, four tested positive. At The Meath (TM), 8/80 residents were symptomatic but none tested; 26/250 caregivers were tested, two positive. At Young Epilepsy (YE), 8/80 children were tested, all negative; 22/517 caregivers were tested, one positive. Infection outbreaks in long-term care facilities for vulnerable people with epilepsy can be quickly contained, but only if asymptomatic individuals are identified through enhanced surveillance at resident and caregiver level. We observed a low rate of morbidity and mortality, which confirmed that preventative measures with isolation of suspected and confirmed COVID-19 residents can reduce resident-to-resident and resident-to-caregiver transmission. Children and young adults appear to have lower infection rates. Even in people with epilepsy and multiple co-morbidities, we observed a high percentage of asymptomatic people suggesting that epilepsy-related factors (anti-seizure medications and seizures) do not necessarily lead to poor outcomes.

Published
2021

3. Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers

Author

Catherine F Houlihan, Nina Vora, Thomas Byrne, Dan Lewer, Gavin Kelly, Judith Heaney, Sonia Gandhi, Moira J Spyer, Rupert Beale, Peter Cherepanov, David Moore, Richard Gilson, Steve Gamblin, George Kassiotis, Laura E McCoy, Charles Swanton, Andrew Hayward, Eleni Nastouli, Jim Aitken, Zoe Allen, Rachel Ambler, Karen Ambrose, Emma Ashton, Alida Avola, Samutheswari Balakrishnan, Caitlin Barns-Jenkins, Genevieve Barr, Sam Barrell, Souradeep Basu, Clare Beesley, Nisha Bhardwaj, Shahnaz Bibi, Ganka Bineva-Todd, Dhruva Biswas, Michael J Blackman, Dominique Bonnet, Faye Bowker, Malgorzata Broncel, Claire Brooks, Michael D Buck, Andrew Buckton, Timothy Budd, Alana Burrell, Louise Busby, Claudio Bussi, Simon Butterworth, Fiona Byrne, Richard Byrne, Simon Caidan, Joanna Campbell, Johnathan Canton, Ana Cardoso, Nick Carter, Luiz Carvalho, Raffaella Carzaniga, Natalie Chandler, Qu Chen, Laura Churchward, Graham Clark, Bobbi Clayton, Clementina Cobolli Gigli, Zena Collins, Sally Cottrell, Margaret Crawford, Laura Cubitt, Tom Cullup, Heledd Davies, Patrick Davis, Dara Davison, Annalisa D'Avola, Vicky Dearing, Solene Debaisieux, Monica Diaz-Romero, Alison Dibbs, Jessica Diring, Paul C Driscoll, Christopher Earl, Amelia Edwards, Chris Ekin, Dimitrios Evangelopoulos, Rupert Faraway, Antony Fearns, Aaron Ferron, Efthymios Fidanis, Dan Fitz, James Fleming, Bruno Frederico, Alessandra Gaiba, Anthony Gait, Liam Gaul, Helen M Golding, Jacki Goldman, Robert Goldstone, Belen Gomez Dominguez, Hui Gong, Paul R Grant, Maria Greco, Mariana Grobler, Anabel Guedan, Maximiliano G Gutierrez, Fiona Hackett, Ross Hall, Steinar Halldorsson, Suzanne Harris, Sugera Hashim, Lyn Healy, Susanne Herbst, Graeme Hewitt, Theresa Higgins, Steve Hindmarsh, Rajnika Hirani, Joshua Hope, Elizabeth Horton, Beth Hoskins, Michael Howell, Louise Howitt, Jacqueline Hoyle, Mint R Htun, Michael Hubank, Hector Huerga Encabo, Deborah Hughes, Jane Hughes, Almaz Huseynova, Ming-Shih Hwang, Rachael Instrell, Deborah Jackson, Mariam Jamal-Hanjani, Lucy Jenkins, Ming Jiang, Mark Johnson, Leigh Jones, Nnennaya Kanu, Louise Kiely, Anastacio King Spert Teixeira, Stuart Kirk, Svend Kjaer, Ellen Knuepfer, Nikita Komarov, Paul Kotzampaltiris, Konstantinos Kousis, Tammy Krylova, Ania Kucharska, Robyn Labrum, Catherine Lambe, Michelle Lappin, Stacey-Ann Lee, Andrew Levett, Lisa Levett, Marcel Levi, Hon-Wing Liu, Sam Loughlin, Wei-Ting Lu, James I MacRae, Akshay Madoo, Julie A Marczak, Mimmi Martensson, Thomas Martinez, Bishara Marzook, John Matthews, Joachim M Matz, Samuel McCall, Fiona McKay, Edel C McNamara, Carlos M Minutti, Gita Mistry, Miriam Molina-Arcas, Beatriz Montaner, Kylie Montgomery, Catherine Moore, Anastasia Moraiti, Lucia Moreira-Teixeira, Joyita Mukherjee, Cristina Naceur-Lombardelli, Aileen Nelson, Jerome Nicod, Luke Nightingale, Stephanie Nofal, Paul Nurse, Savita Nutan, Caroline Oedekoven, Anne O'Garra, Jean D O'Leary, Jessica Olsen, Olga O'Neill, Paula Ordonez Suarez, Nicola O'Reilly, Neil Osborne, Amar Pabari, Aleksandra Pajak, Venizelos Papayannopoulos, Namita Patel, Yogen Patel, Oana Paun, Nigel Peat, Laura Peces-Barba Castano, Ana Perez Caballero, Jimena Perez-Lloret, Magali S Perrault, Abigail Perrin, Roy Poh, Enzo Z Poirier, James M Polke, Marc Pollitt, Lucia Prieto-Godino, Alize Proust, Rajvee Shah Punatar, Clinda Puvirajasinghe, Christophe Queval, Vijaya Ramachandran, Abhinay Ramaprasad, Peter Ratcliffe, Laura Reed, Caetano Reis e Sousa, Kayleigh Richardson, Sophie Ridewood, Rowenna Roberts, Angela Rodgers, Pablo Romero Clavijo, Annachiara Rosa, Alice Rossi, Chloe Roustan, Andrew Rowan, Erik Sahai, Aaron Sait, Katarzyna Sala, Theo Sanderson, Pierre Santucci, Fatima Sardar, Adam Sateriale, Jill A Saunders, Chelsea Sawyer, Anja Schlott, Edina Schweighoffer, Sandra Segura-Bayona, Joe Shaw, Gee Yen Shin, Mariana Silva Dos Santos, Margaux Silvestre, Matthew Singer, Daniel M Snell, Ok-Ryul Song, Louisa Steel, Amy Strange, Adrienne E Sullivan, Michele SY Tan, Zoe H Tautz-Davis, Effie Taylor, Gunes Taylor, Harriet B Taylor, Alison Taylor-Beadling, Fernanda Teixeira Subtil, Berta Terré Torras, Patrick Toolan-Kerr, Francesca Torelli, Tea Toteva, Moritz Treeck, Hadija Trojer, Ming-Han C Tsai, James MA Turner, Melanie Turner, Jernej Ule, Rachel Ulferts, Sharon P Vanloo, Selvaraju Veeriah, Subramanian Venkatesan, Karen Vousden, Andreas Wack, Claire Walder, Philip A Walker, Yiran Wang, Sophia Ward, Catharina Wenman, Luke Wiliams, Matthew J Williams, Wai Keong Wong, Joshua Wright, Mary Wu, Lauren Wynne, Zheng Xiang, Melvyn Yap, Julian A Zagalak, Davide Zecchin, Rachel Zillwood, Rebecca Matthews, Abigail Severn, Sajida Adam, Louise Enfield, Angela McBride, Kathleen Gärtner, Sarah Edwards, Fabiana Lorencatto, Susan Michie, Ed Manley, Maryam Shahmanesh, Hinal Lukha, Paulina Prymas, Hazel McBain, Robert Shortman, Leigh Wood, Claudia Davies, Bethany Williams, Kevin W Ng, Georgina H Cornish, Nikhil Faulkner, Andrew Riddell, Philip Hobson, Ana Agua-Doce, Kerol Bartolovic, Emma Russell, Lotte Carr, Emilie Sanchez, Daniel Frampton, Matthew Byott, Stavroula M Paraskevopoulou, Elise Crayton, Carly Meyer, Triantafylia Gkouleli, Andrea Stoltenberg, Veronica Ranieri, Tom Byrne, Fiona Roberts, and Emine Hatipoglu

Subjects
Adult, 2019-20 coronavirus outbreak, Infectious Disease Transmission, Patient-to-Professional, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Health Personnel, Pneumonia, Viral, Viral transmission, Antibodies, Viral, Risk Assessment, Article, Betacoronavirus, Environmental health, Occupational Exposure, Pandemic, Health care, London, Medicine, Humans, Prospective Studies, Seroconversion, Pandemics, Cross Infection, business.industry, SARS-CoV-2, COVID-19, General Medicine, Occupational exposure, business, Coronavirus Infections
Published
2020

4. Domestic violence in pregnancy

Author

Caroline. Squire and Sally. Cottrell

Subjects
Pregnancy, Environmental health, medicine, Domestic violence, medicine.disease, Psychology
Published
2017

5. FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update

Author

Fiona Connell, Peter S. Mortimer, Rohan Taylor, Sally Cottrell, John P. Short, Steve Jeffery, Sahar Mansour, Glen Brice, Sarah L. Spiden, Pia Ostergaard, and Kristiana Gordon

Subjects
Lineage (genetic), Biology, computer.software_genre, medicine.disease_cause, Mice, Databases, Genetic, Genetics, medicine, Missense mutation, Animals, Humans, Primary lymphedema, Genetic Predisposition to Disease, Lymphedema, Gene, Genetics (clinical), Genetic Association Studies, Family Health, Mutation, Database, medicine.disease, Vascular Endothelial Growth Factor Receptor-3, FLT4, Penetrance, RNA splicing, computer
Abstract

Milroy disease (MD) is an autosomal dominantly inherited primary lymphedema. In 1998, the gene locus for MD was mapped to 5q35.3 and variants in the VEGFR3 (FLT4) gene, encoding vascular endothelial growth factor receptor 3 (VEGFR3), were identified as being responsible for the majority of MD cases. Several reports have since been published detailing pathogenic FLT4 mutations. To date, a total of 58 different variants in FLT4, 20 of which are unpublished, have been observed in 95 families with MD. A review of published mutations is presented in this update. Furthermore, the unpublished variants are presented including clinical data. Comparison of clinical features in patients and their families with the same mutations reveals incomplete penetrance and variable expression, making genotype–phenotype correlations difficult. Most mutations are missense, but a few deletions and one splicing variant have also been reported. Several animal models have confirmed the role of VEGFR3 in lymphangiogenesis and studies show mutant VEGFR3 receptors are not phosphorylated. Here, an MD patient with the same p.Ile1053Phe change as seen in the Chy mouse is presented for the first time. This finding confirms that this mouse lineage is an excellent model for MD. All the data reviewed here has been submitted to a database based on the Leiden Open (source) Variation Database (LOVD) and is accessible online at www.lovd.nl/flt4.

Published
2012

6. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases

Author

Peter Lunt, Ghulam J. Mufti, Peter S. Mortimer, Colin G. Steward, Jackie Cornish, Russell Keenan, Sarah F. Smithson, Shirley Hodgson, Inderjeet Dokal, Steve Jeffery, Fiona Connell, Pia Ostergaard, Sahar Mansour, Kamini Kalidas, Sally Cottrell, Tom Vulliamy, Louise Kiely, Victoria Murday, Lorna Tinworth, Brenda Gibson, and Glen Brice

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Young Adult, Monosomy, hemic and lymphatic diseases, Hypotelorism, Genetics, Medicine, Humans, Sex organ, Primary lymphedema, Abnormalities, Multiple, Genitalia, Lymphedema, Child, Genetics (clinical), Immunodeficiency, business.industry, Incidence (epidemiology), Infant, Newborn, Infant, medicine.disease, Dermatology, Pancytopenia, MonoMAC, body regions, Leukemia, Myeloid, Acute, Child, Preschool, Myelodysplastic Syndromes, Immunology, Female, business, Chromosomes, Human, Pair 7, Lower Extremity Deformities, Congenital
Abstract

Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency.

Published
2010

7. A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

Author

Christina Lich, Stephanie Groß, J.F. Harvey, I. Karen Temple, Sally Cottrell, Dvorah Abeliovich, Israela Lerer, Karin Buiting, Bernd Dworniczak, Bernhard Horsthemke, and Bärbel Dittrich

Subjects
Adult, Genetic Markers, Male, Adolescent, Sequence analysis, Chromosome 15q11–q13, Biology, Methylation, Deletion, Genomic Imprinting, Angelman syndrome, Germany, Happy puppet syndrome, Genetics, medicine, Humans, Genetics(clinical), False Positive Reactions, Genetic Testing, Cloning, Molecular, Paternal Inheritance, Child, D15S63, Genetics (clinical), Base Sequence, Haplotype, Breakpoint, Genetic Variation, Chromosome Breakage, Articles, DNA Methylation, medicine.disease, Physical Chromosome Mapping, Pedigree, Haplotypes, Child, Preschool, Female, Prader-Willi, Chromosome breakage, Angelman Syndrome, Chromosome Deletion, Genomic imprinting, Prader-Willi Syndrome
Abstract

Methylation analysis with probe PW71 (D15S63) is an established procedure to test patients suspected of having Prader-Willi syndrome or Angelman syndrome. Using this test, we have identified a 28-kb deletion spanning D15S63 in five independent families. Sequence analysis revealed identical breakpoints in all the families. The haplotype data are compatible with a common ancestral origin of the deletion in at least two families. The deletion was not found in 1,000 unrelated controls. Although the deletion maps within the imprinting-center region, neither maternal nor paternal inheritance of the deletion appears to affect imprinting in proximal 15q. We conclude that the deletion is a rare neutral variant that can lead to false-positive results in the PW71-methylation test.

Published
1999

8. Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22

Author

John Trowsdale, Gordon J. Allan, William D. Foulkes, and Sally Cottrell

Subjects
Genes, APC, Molecular Sequence Data, Biology, Adenocarcinoma, Polymerase Chain Reaction, Loss of heterozygosity, Exon, Ovarian carcinoma, Complementary DNA, Genetics, Humans, Amino Acid Sequence, Ovarian tumours, Codon, Gene, Genetics (clinical), DNA Primers, Repetitive Sequences, Nucleic Acid, Ovarian Neoplasms, Base Sequence, Chromosome, Chromosome Mapping, Single-strand conformation polymorphism, DNA, Neoplasm, Exons, Molecular biology, Introns, Blotting, Southern, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, DNA Probes
Abstract

Frequent loss of heterozygosity in ovarian carcinoma (OC) has been reported on several different chromosomes. We have studied 27 OCs and corresponding normal tissue for loss of heterozygosity (LOH) using 10 markers detecting polymorphisms on chromosome 5 (two on 5p and eight on 5q). Three tumours showed extra copies, rather than loss, of one homologue. Twelve of 24 remaining tumours showed LOH on 5q (50%), and 8 of 21 on 5p (38%). Of the 12 showing LOH on 5q, 7 showed reduction to homozygosity at all informative markers over the chromosome. The remaining 5 showed LOH over all of 5q. These data are consistent with the localisation of a tumour suppressor gene on 5q involved in OC. A good candidate is the APC gene, which is mutated in a number of adenocarcinomas derived from several tissues and is located at 5q21–22. The APC gene was studied in 40 ovarian tumours, including all the OCs showing LOH, by single-strand conformation polymorphism (SSCP). Analysis of all the exons containing published mutations (∼4.7 kb of the cDNA) did not reveal any band shifts that could be attributed to mutations. However, a new polymorphism was detected, as well as 7 known polymorphisms. Together, these data indicate that (1) LOH is common on chromosome 5 in OC, (2) APC is not mutated in OC, and (3) another gene (or genes) on chromosome 5q is responsible for the LOH seen. © 1994 Wiley-Liss, Inc.

Published
1994

9. A LONG-RANGE RESTRICTION MAP OF HUMAN CHROMOSOME-5Q21-Q23

Author

J.R.Tristan Ward, Sally Cottrell, Huw J.W. Thomas, Tania A. Jones, Cathy M. Howe, Garret M. Hampton, Larry Deaven, Denise Sheer, Walter F. Bodmer, Ellen Solomon, and Anna-Maria Frischauf

Subjects
Genetic Markers, Genetics, biology, Gene map, Genome, Human, Adenomatous polyposis coli, Hybridization probe, Restriction Mapping, Chromosome, Cosmids, Restriction map, Adenomatous Polyposis Coli, Gene mapping, Genetic marker, biology.protein, Chromosomes, Human, Pair 5, Humans, Chromosomes, Fungal, DNA Probes, Gene, In Situ Hybridization, Fluorescence, Polymorphism, Restriction Fragment Length, Gene Library
Abstract

A long-range restriction map encompassing the APC (adenomatous polyposis coli) gene has been constructed. The map includes 35 DNA markers and consists of two segments of 10 and 2.5 Mb. Published genetic markers have been connected using additional, nonpolymorphic DNA probes. The map clarifies marker order and allows comparison of physical and genetic data.

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