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Coffin lowry syndrome

Yong-Yeon Cho
Accumulating studies have provided concrete evidence that p90 ribosomal S6 kinase 2 (RSK2) is a key signaling molecule involved in cell proliferation, transformation, and cancer development. RSK2 is known to be an etiological gene of Coffin-Lowry Syndrome (CLS). Recently, signaling analysis and molecular biological approaches have provided concrete evidence that RSK2 plays an essential role in human cancers. Here, we will extensively discuss signaling pathways regulating RSK2 activity, the role of RSK2 in human cancer development, inhibitors suppressing RSK2 activity, and why RSK2 is an important target to develop drugs for human cancers...
July 14, 2017: Current Pharmaceutical Design
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal
Introduction  Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies, myofibrillar myopathies), or rare presentation of genetic syndromes (e.g., Coffin-Lowry syndrome) account for a minority of the cases, the majority remaining idiopathic. Case Study  We report the case of a 17-day-old male infant presenting cardiogenic shock following a restrictive dysfunction of the left ventricle...
April 2017: American Journal of Perinatology Reports
Matthias Fischer, Victoria Cabello, Sandy Popp, Sven Krackow, Leif Hommers, Jürgen Deckert, Klaus-Peter Lesch, Angelika G Schmitt-Böhrer
Ribosomal s6 kinase 2 is a growth factor activated serine/threonine kinase and member of the ERK signaling pathway. Mutations in the Rsk2 gene cause Coffin-Lowry syndrome, a rare syndromic form of intellectual disability. The Rsk2 KO mouse model was shown to have learning and memory defects. We focused on the investigation of the emotional behavioral phenotype of Rsk2 KO mice mainly in the IntelliCage. They exhibited an anti-depressive, sucrose reward seeking phenotype and showed reduced anxiety. Spontaneous activity was increased in some conventional tests...
June 6, 2017: Behavior Genetics
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
Edmilson Bastos de Moura, Érica Leal Teixeira de Moura, Fábio Ferreira Amorim, Vânia Maria Oliveira
We describe a 27-year-old patient with Coffin-Lowry syndrome with severe community pneumonia, septic shock and respiratory failure. We summarize both the mechanical ventilatory assistance and the hospitalization period in the intensive care unit.
October 2016: Revista Brasileira de Terapia Intensiva
Elisa Giorgio, Alessandro Brussino, Elisa Biamino, Elga Fabia Belligni, Alessandro Bruselles, Andrea Ciolfi, Viviana Caputo, Simone Pizzi, Alessandro Calcia, Eleonora Di Gregorio, Simona Cavalieri, Cecilia Mancini, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Iolanda Borelli, Antonio Amoroso, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco
BACKGROUND: More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10-15% of intellectual disability (ID). METHOD: To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases whose mother showed a skewed X-inactivation (>80%) that underwent whole exome sequencing (WES, 50X average depth)...
May 2017: European Journal of Paediatric Neurology: EJPN
Darkhan Utepbergenov, Paulina M Hennig, Urszula Derewenda, Mykhaylo V Artamonov, Avril V Somlyo, Zygmunt S Derewenda
Ribosomal S6 kinases (RSK) play important roles in cell signaling through the mitogen-activated protein kinase (MAPK) pathway. Each of the four RSK isoforms (RSK1-4) is a single polypeptide chain containing two kinase domains connected by a linker sequence with regulatory phosphorylation sites. Here, we demonstrate that full-length RSK2-which is implicated in several types of cancer, and which is linked to the genetic Coffin-Lowry syndrome-can be overexpressed with high yields in Escherichia coli as a fusion with maltose binding protein (MBP), and can be purified to homogeneity after proteolytic removal of MBP by affinity and size-exclusion chromatography...
2016: PloS One
Tadao Morino, Tadanori Ogata, Hideki Horiuchi, Shintaro Yamaoka, Mitsumasa Fukuda, Hiromasa Miura
BACKGROUND: We report 8 years of follow-up after decompression to treat cervical myelopathy in a patient with Coffin-Lowry syndrome (CLS). CLS is a rare X-linked semidominant syndrome associated with growth and psychomotor retardation, general hypotonia, and skeletal abnormalities. In this patient, the spinal cord was compressed by calcium pyrophosphate crystal deposition in the cervical yellow ligament (YL). To date, only 1 report has described clinical features after surgery for calcified cervical YL in CLS...
August 2016: Medicine (Baltimore)
T Koehne, A Jeschke, F Petermann, S Seitz, M Neven, S Peters, J Luther, M Schweizer, T Schinke, B Kahl-Nieke, M Amling, J-P David
The ribosomal S6 kinase RSK2 is essential for osteoblast function, and inactivating mutations of RSK2 cause osteopenia in humans with Coffin-Lowry syndrome (CLS). Alveolar bone loss and premature tooth exfoliation are also consistently reported symptoms in CLS patients; however, the pathophysiologic mechanisms are unclear. Therefore, aiming to identify the functional relevance of Rsk2 for tooth development, we analyzed Rsk2-deficient mice. Here, we show that Rsk2 is a critical regulator of cementoblast function...
July 2016: Journal of Dental Research
G Imataka, I Nakajima, K Goto, W Konno, H Hirabayashi, O Arisaka
Some cases of Coffin-Lowry syndrome recognized episodic drops and it tended to be intractable for medical treatment. We reported here a patient with the Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome (OSAS). The patient had epileptic seizures and drop attacks only during night-time and it was not recognized during the daytime. His sleep-induced electroencephalogram was normal. At 12-years old of his age, his OSAS was worse, so we performed a tracheotomy. Notably after the operation, his epileptic episodes were disappeared...
2016: European Review for Medical and Pharmacological Sciences
Veronica Bertini, Francesca Cambi, Rossella Bruno, Benedetta Toschi, Francesca Forli, Stefano Berrettini, Paolo Simi, Angelo Valetto
Here, we report on a patient with a 625 kb duplication in Xp22.12, detected by array comparative genomic hybridization (CGH). The duplicated region contains only one gene, RPS6KA3, that results in partial duplication. The same duplication was present in his mother and his maternal uncle. This partial duplication inhibits the RPS6KA3 expression, mimicking the effect of loss-of-function mutations associated with Coffin-Lowry syndrome (CLS). The phenotype of the patient here presented is not fully evocative of this syndrome because he does not present some of the facial, digital and skeletal abnormalities that are considered the main diagnostic features of CLS...
December 2015: Journal of Human Genetics
Jonathan D J Labonne, Min Ji Chung, Julie R Jones, Priya Anand, Wolfgang Wenzel, Daniela Iacoboni, Lawrence C Layman, Hyung-Goo Kim
Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant disorder characterized by diverse phenotypes including intellectual disability, facial and digital anomalies. Loss-of-function mutations in the Ribosomal Protein S6 Kinase Polypeptide 3 (RPS6KA3) gene have been shown to be responsible for CLS. Among the large number of mutations, however, no exonic mutation causing exon skipping has been described. Here, we report a male patient with CLS having a novel mutation at the 3' end of an exon at a splice donor junction...
January 1, 2016: Gene
Markus Gschwind, Giovanni Foletti, Alessandra Baumer, Armand Bottani, Jan Novy
Coffin-Lowry syndrome (CLS) is a rare neurodevelopmental condition caused by heterogeneous mutations in the RPS6KA3 gene on the X chromosome, leading to severe intellectual disability and dysmorphism in men, while women are carriers and only weakly affected. CLS is well known for stimulus-induced drop episodes; however, epilepsy is not commonly reported in this condition. We report on a CLS patient presenting with recurrent episodes of nonconvulsive status epilepticus (NCSE) with generalized epileptic activity, for which investigations did not find any other cause than the patient's genetic condition...
July 2015: Molecular Syndromology
Martje E van Egmond, Jan Willem J Elting, Anouk Kuiper, Rodi Zutt, Kirsten R Heineman, Oebele F Brouwer, Deborah A Sival, Michel A Willemsen, Marina A J Tijssen, Tom J de Koning
BACKGROUND: In clinical practice, myoclonus in childhood-onset neurogenetic disorders frequently remains unrecognized, because it is often overshadowed by other neurological features. Since treatment can lead to significant functional improvement, accurate phenotyping is essential. To demonstrate the importance of early identification and treatment, we report on four patients with various childhood-onset neurogenetic disorders suffering from myoclonus. METHODS: We evaluated four patients with established childhood-onset neurogenetic disorders and involuntary jerky movements, who visited our young-onset movement disorder outpatient clinic...
November 2015: European Journal of Paediatric Neurology: EJPN
Inés Quintela, Francisco Barros-Angueira, Laura Pérez-Gay, Manuel Castro-Gago, Ángel Carracedo, Jesús Eirís-Puñal
No abstract text is available yet for this article.
July 16, 2015: Revista de Neurologia
T Tos, M Y Alp, A Aksoy, S Ceylaner, A Hanauer
Coffin-Lowry syndrome (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and growth retardation, distinct facial phenotype, and progressive skeletal malformations. It is caused by mutations in the RPS6KA3 gene located at Xp22.2. In this report we describe a family with CLS consists of three affected males, and two affected females, arising from c.898C>T mutation in RPS6KA3 gene. A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, microcephaly, prominent forehead, hypertelorism, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum...
2015: Genetic Counseling
Jacob Loupe, Srirangan Sampath, Yves Lacassie
We report an African-American family that was identified after the proposita was referred for diagnostic evaluation at 4½ months with a history of Hirschsprung and dysmorphic features typical of Waardenburg syndrome (WS). Family evaluation revealed that the father had heterochromidia irides and hypertelorism supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of Coffin-Lowry syndrome (CLS). Molecular testing of the mother identified a novel 2 bp deletion (c...
October 2014: European Journal of Medical Genetics
Peng-Chieh Chen, Jiani Yin, Hui-Wen Yu, Tao Yuan, Minerva Fernandez, Christina K Yung, Quang M Trinh, Vanya D Peltekova, Jeffrey G Reid, Erica Tworog-Dube, Margaret B Morgan, Donna M Muzny, Lincoln Stein, John D McPherson, Amy E Roberts, Richard A Gibbs, Benjamin G Neel, Raju Kucherlapati
Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities. Known causative genes account for 70-80% of clinically diagnosed NS patients, but the genetic basis for the remaining 20-30% of cases is unknown. We performed next-generation sequencing on germ-line DNA from 27 NS patients lacking a mutation in the known NS genes. We identified gain-of-function alleles in Ras-like without CAAX 1 (RIT1) and mitogen-activated protein kinase kinase 1 (MAP2K1) and previously unseen loss-of-function variants in RAS p21 protein activator 2 (RASA2) that are likely to cause NS in these patients...
August 5, 2014: Proceedings of the National Academy of Sciences of the United States of America
Hiromi Koso Nishimoto, Kyungsoo Ha, Julie R Jones, Alka Dwivedi, Hyun-Min Cho, Lawrence C Layman, Hyung-Goo Kim
Coffin-Lowry syndrome (CLS) is a rare X-linked dominant disorder characterized by intellectual disability, craniofacial abnormalities, short stature, tapering fingers, hypotonia, and skeletal malformations. CLS is caused by mutations in the Ribosomal Protein S6 Kinase, 90 kDa, Polypeptide 3 (RPS6KA3) gene located at Xp22.12, which encodes Ribosomal S6 Kinase 2 (RSK2). Here we analyzed RPS6KA3 in three unrelated CLS patients including one from the historical Coffin-Lowry syndrome family and found two novel mutations...
September 2014: American Journal of Medical Genetics. Part A
Yuki Kawana, Kenta Okamura, Kiyoyasu Kurahashi
A 12-year-old male patient with Coffin-Lowry syndrome was scheduled for posterior cervical decompression and fusion for cervical spinal injuries. The patient had features of Coffin-Lowry syndrome including mental retardation, prominent forehead, a short nose with a wide tip, a wide mouth with full lips, short stature, microcephaly, and kyphoscoliosis. We anticipated major troubles related to anesthesia such as difficult ventilation and intubation, communication difficulty during induction and extubation, and difficulty in using a naso-pharyngeal airway...
February 2014: Masui. the Japanese Journal of Anesthesiology
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