Article
Health Care Sciences & Services
Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao-Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Summary: This study characterized the epigenotype, genotype, and phenotype of SRS patients in Taiwan, finding a positive correlation between SRS score and molecular diagnosis rate. Subjects with mUPD7 had fewer typical features and lower SRS scores compared to those with IC1 hypomethylation. Careful clinical observation and timely molecular confirmation are crucial for early diagnosis and multidisciplinary management of SRS patients.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Endocrinology & Metabolism
Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Isono Hara, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
Summary: This study aimed to investigate the contribution of imprinting disorders (IDs) as (epi)genetic causes of SGA-SS and the molecular and phenotypic spectrum of Silver-Russell syndrome (SRS). The results showed that various IDs constitute underlying factors for SGA-SS, including SRS.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Giuseppa Patti, Federica Malerba, Maria Grazia Calevo, Maurizio Schiavone, Marco Scaglione, Emilio Casalini, Silvia Russo, Daniela Fava, Marta Bassi, Flavia Napoli, Anna Elsa Maria Allegri, Giuseppe D'Annunzio, Roberto Gastaldi, Mohamad Maghnie, Natascia Di Iorgi
Summary: Pubertal timing is earlier in Silver Russell syndrome (SRS), especially in cases with maternal uniparental disomy of chromosome 7 (mUPD7) compared to 11p15 loss of methylation (11p15 LOM). The impact of early puberty on adult height and metabolic status needs further evaluation.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi, Romano Tenconi, Massimo Carella, Andrea Riccio, Flavia Cerrato
Summary: This study reports two novel cases with SRS phenotype, with one case showing upd(11)mat covering the entire chromosome and the other case restricted to a specific chromosomal region, adding further to the list of molecular defects of opposite sign in SRS and BWS.
Article
Pediatrics
Silvia Ciancia, Wesley J. Goedegebuure, Lionne N. N. Grootjen, Anita C. S. Hokken-Koelega, Gerthe F. F. Kerkhof, Danielle C. M. van der Kaay
Summary: The Face2Gene app has proven to be a useful tool in aiding the diagnosis of genetic diseases by analyzing facial features. This study evaluated its performance in patients with SRS and PWS, showing high sensitivities and accuracy in identifying these syndromes.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Genetics & Heredity
Krista Marie Vincent, Dimitri J. Stavropoulos, Melanie Beaulieu-Bergeron, Chen Yang, Mary Jiang, Caroline Zuijdwijk, David A. Dyment, Gail E. Graham
Summary: This study describes a patient with a SRS-like phenotype and a paternally inherited microdeletion in the 7q32.2 region, including MEST gene. These findings provide further evidence supporting the significance of MEST in 7q32.2 microdeletion growth disorder and upd(7)mat SRS itself.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Marvin Ziegler, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley Kornblum, Darius Ebrahimi-Fakhari
Summary: This case highlights the importance of investigating recessive conditions caused by variants in genes that localize to the region of homozygosity in patients with atypical clinical features of well-described imprinting disorders.
NEUROLOGY-GENETICS
(2021)
Review
Medicine, General & Internal
Jie Li, Li-Na Chen, Hai-Lan He
Summary: CDKN1C mutations can lead to SRS without limb asymmetry and adrenal insufficiency. In familial SRS patients, the PCNA region of CDKN1C should be analyzed to identify functional mutations and exclude adrenal insufficiency.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Genetics & Heredity
Eva M. C. Schwaibold, Jasmin Beygo, Katharina Obeid, Anna Jauch, Katrin Hinderhofer, Ute Moog
Summary: This case report describes a 6-month-old boy with a rare combination of both Silver-Russell syndrome (SRS) and Sotos syndrome. Genetic testing confirmed SRS in the patient with typical clinical features.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Rebecca E. Brereton, Sarah L. Nickerson, Karen J. Woodward, Tracey Edwards, Soruba Sivamoorthy, Fabiana Ramos Vasques Walters, Vicki Chabros, Vanessa Marchin, Tanya Grumball, Dagmara Kennedy, Joan Uzaraga, Joanne Peverall, Gillian Arscott, John Beilby, Catherine S. Choong, Sharron Townshend, Dimitar N. Azmanov
Summary: Silver-Russell syndrome (SRS) is a rare genetic condition characterized by growth restriction and facial dysmorphisms, with a complex and diverse genetic background involving various gene variants and chromosomal rearrangements. A familial study identified a PLAG1 gene deletion associated with complex chromosomal rearrangement, highlighting the expanding heterogeneity of SRS.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Endocrinology & Metabolism
Oluwakemi Lokulo-Sodipe, Eloise Giabicani, Ana P. M. Canton, Nawfel Ferrand, Jenny Child, Emma L. Wakeling, Gerhard Binder, Irene Netchine, Deborah J. G. Mackay, Hazel M. Inskip, Christopher D. Byrne, I. Karen Temple, Justin H. Davies
Summary: The results of this study support the use of GH treatment in SRS patients to increase height SDS. GH treatment was also associated with lower adult BMI, indicating improved metabolic health even after discontinuation of therapy. These findings provide important insights for clinical management of SRS patients.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Alessandro Vimercati, Pierpaola Tannorella, Eleonora Orlandini, Luciano Calzari, Mirella Moro, Sara Guzzetti, Angelo Selicorni, Milena Crippa, Lidia Larizza, Maria Teresa Bonati, Silvia Russo
Summary: The amount of IGF2 controls growth rate, and dysregulation due to IC1 LoM or GoM leads to SRS or BWS disorders respectively. A girl with right body asymmetry was diagnosed with SRS but later re-evaluation revealed IC1_LoM and a range of symptoms including macrocephaly and neurological issues. Trio-WES identified a VPS16 variant which, combined with IGF2 deficit, could explain the proband's neurological phenotype.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Ping Dong, Nan Zhang, Ying Zhang, Chun-xue Liu, Chun-lan Li
Summary: This study reported a patient with SRS carrying a novel variant of PLAG1, identifying the sixth case of PLAG1 variants leading to SRS. Comparisons with previously reported cases revealed typical symptoms in the patient, including prenatal and postnatal growth retardation, relative macrocephaly, prominent forehead, and triangular face.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Article
Medical Laboratory Technology
Soo Yeon Kim, Chang Ho Shin, Young Ah Lee, Choong Ho Shin, Sei Won Yang, Tae-Joon Cho, Jung Min Ko
Summary: The study evaluated the molecular basis and clinical value of sequential epigenetic analysis in pediatric patients with SRS. Results showed that patients with methylation defects responded better to growth hormone treatment.
ANNALS OF LABORATORY MEDICINE
(2021)
Article
Medicine, General & Internal
Fatima-Zahra Lahmamssi, Loubna Saadaoui, Hayat Aynaou, Houda Salhi, Hanan El Ouahabi
Summary: This article reports a case of Silver-Russell syndrome (SRS) with associated thyroid dysgenesis. The case highlights the importance of morphological assessment in search of other anomalies to improve management of SRS.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Genetics & Heredity
Madeleine Tooley, Danielle Lynch, Francois Bernier, Jillian Parboosingh, Elizabeth Bhoj, Elaine Zackai, Alistair Calder, Nobue Itasaki, Emma Wakeling, Richard Scott, Melissa Lees, Jill Clayton-Smith, Moira Blyth, Jenny Morton, Debbie Shears, Usha Kini, Tessa Homfray, Angus Clarke, Angela Barnicoat, Colin Wallis, Rebecca Hewitson, Amaka Offiah, Michael Saunders, Simon Langton-Hewer, Tom Hilliard, Peter Davis, Sarah Smithson
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2016)
Article
Endocrinology & Metabolism
Emma L. Wakeling, Frederic Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska, Justin H. Davies, Renuka P. Dias, Beatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Gronskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Masayo Kagami, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Tsutomu Ogata, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tumer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, Irene Netchine
NATURE REVIEWS ENDOCRINOLOGY
(2017)
Article
Biochemistry & Molecular Biology
Stephanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valerie Benoit, Alfonso Caro-Llopis, Nicola S. Cooper, Francois-Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjorn I. Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martinez, Sarju G. Mehta, Marie-Cecile Nassogne, Nina Powell-Hamilton, Rolph Pfundt, Monica Rosello, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen-Dumoulin, Alain Verloes, Charlotte von der Lippe, Emma Wakeling, Andrew O. M. Wilkie, Louise Wilson, Amy Yuen, Karen J. Low, Ruth A. Newbury-Ecob
EUROPEAN JOURNAL OF HUMAN GENETICS
(2018)
Article
Genetics & Heredity
Mark J. Hamilton, Richard C. Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O. M. Wilkie, Stephen R. F. Twigg, Mohnish Suri
JOURNAL OF MEDICAL GENETICS
(2018)
Article
Genetics & Heredity
Schaida Schirwani, Emma Wakeling, Kath Smith, Meena Balasubramanian
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2018)
Article
Pediatrics
Lisa Marie Ballard, Elizabeth Jenkinson, Christopher D. Byrne, Jenny C. Child, Justin Huw Davies, Hazel Inskip, Oluwakemi Lokulo-Sodipe, Deborah J. G. Mackay, Emma L. Wakeling, I. Karen Temple, Angela Fenwick
ARCHIVES OF DISEASE IN CHILDHOOD
(2019)
Article
Genetics & Heredity
D. R. Bertola, G. Hsia, L. Alvizi, A. Gardham, E. L. Wakeling, G. L. Yamamoto, R. S. Honjo, L. A. N. Oliveira, R. C. Di Francesco, B. A. Perez, C. A. Kim, M. R. Passos-Bueno
Article
Biochemistry & Molecular Biology
Amina Al-Yassin, Alistair D. Calder, Mike Harrison, Tracy Lester, Helen Lord, Michael Oldridge, Sophie Watkins, Richard Keen, Emma L. Wakeling
EUROPEAN JOURNAL OF HUMAN GENETICS
(2018)
Article
Genetics & Heredity
Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, Louise E. Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L. Wakeling, Stephanie Kleinle, Daniela Gonzalez Fassrainer, Barbara Oehl-Jaschkowitz, Claire L. S. Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G. Mehta, Gareth Baynam, Julian P. Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann, Deborah J. G. Mackay
JOURNAL OF MEDICAL GENETICS
(2018)
Article
Genetics & Heredity
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R. Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J. Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo-Mi Park, Wendy A. Bickmore, Madapura M. Pradeepa, David R. FitzPatrick
Article
Genetics & Heredity
Gabriella S. P. Hsia, Camila M. Musso, Lucas Alvizi, Luciano A. Brito, Gerson S. Kobayashi, Rita C. M. Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli M. Zechi-Ceide, Debora Bertola, Maria Rita Passos-Bueno
FRONTIERS IN GENETICS
(2018)
Article
Genetics & Heredity
Manali Chitre, Michael S. Nahorski, Kaitlin Stouffer, Bryony Dunning-Davies, Hamish Houston, Emma L. Wakeling, Angela F. Brady, Sameer M. Zuberi, Mohnish Suri, Alasdair P. J. Parker, C. Geoffrey Woods
JOURNAL OF MEDICAL GENETICS
(2018)
Article
Genetics & Heredity
Y. A. Zarate, M. Steinraths, A. Matthews, W. E. Smith, A. Sun, L. C. Wilson, C. Brain, J. Allgove, B. Jacobs, J. L. Fish, C. M. Powell, W. W. Wasserman, C. D. van Karnebeek, E. L. Wakeling, N. S. Ma
Article
Genetics & Heredity
Caoimhe McKenna, Anthony Vandersteen, Emma Wakeling, Francis M. Pope, Neeti Ghali
CLINICAL DYSMORPHOLOGY
(2017)
Article
Genetics & Heredity
Keren J. Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Megy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner-Glindzicz, Richard H. Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert H. H. Henderson, Jane Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy A. Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, F. Lucy Raymond
AMERICAN JOURNAL OF HUMAN GENETICS
(2017)