Article
Biochemistry & Molecular Biology
Alba-Aina Castells, Rafel Balada, Alba Tristan-Noguero, Mar O'Callaghan, Elisenda Cortes-Saladelafont, Ainhoa Pascual-Alonso, Angels Garcia-Cazorla, Judith Armstrong, Soledad Alcantara
Summary: This study aims to explore potential biomarkers for Rett syndrome and MECP2 duplication syndrome, and establish a foundation for early diagnosis and monitoring of disease progression. The results suggest the possibility of identifying specific miRNA biomarker panels to aid in stratification of patient groups.
Review
Biochemistry & Molecular Biology
Ainhoa Pascual-Alonso, Antonio F. Martinez-Monseny, Clara Xiol, Judith Armstrong
Summary: Mutations in the MECP2 gene can lead to Rett syndrome, primarily affecting females, while males can have a wide range of clinical presentations. In addition, there are unknown variants in MECP2 that complicate diagnosis. Unlike RTT, MECP2 duplication syndrome predominantly affects males and is usually inherited from the mother.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Florencia Haase, Rachna Singh, Brian Gloss, Patrick Tam, Wendy Gold
Summary: Rett syndrome is a rare disorder that causes intellectual disabilities in females, primarily due to mutations in the MeCP2 gene. The molecular pathways from genotype to phenotype are not yet fully understood. Treatment options for Rett syndrome are limited, and there is a lack of common disease drivers, biomarkers, or therapeutic targets. In this study, a meta-analysis of transcriptomic studies identified a module of genes common to multiple datasets, with ten hub genes driving their expression. These genes have the potential to be therapeutic targets for Rett syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Sheryl Anne D. Vermudez, Aditi Buch, Kelly Weiss, Rocco M. Gogliotti, Colleen M. Niswender
Summary: Rett syndrome and MECP2 Duplication syndrome have opposite molecular origins, but share some clinical and preclinical phenotypes. Modulating mGlu2 and mGlu3 receptors may be a potential treatment option for both disorders.
Article
Biology
Sameer S. Bajikar, Ashley G. Anderson, Jian Zhou, Mark A. Durham, Alexander J. Trostle, Ying-Wooi Wan, Zhandong Liu, Huda Y. Zoghbi
Summary: Loss- and gain-of-function of MeCP2 causes Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. MeCP2 regulates growth differentiation factor 11 (Gdf11), which is down-regulated in RTT mouse models and up-regulated in MDS mouse models. Normalizing Gdf11 levels improves behavioral deficits in MDS mice and losing one copy of Gdf11 causes neurobehavioral deficits in mice. Additionally, loss of one copy of Gdf11 decreases survival in mice. Overall, Gdf11 dosage is important for brain function.
Article
Biochemistry & Molecular Biology
Alexander J. Trostle, Lucian Li, Seon-Young Kim, Jiasheng Wang, Rami Al-Ouran, Hari Krishna Yalamanchili, Zhandong Liu, Ying-Wooi Wan
Summary: Mutations in MeCP2 lead to a debilitating neurological disease, but its molecular role remains unclear. Using a methodology to analyze public transcriptomic data, we discovered a common set of genes that are perturbed and identified functionally distinct subsets within these genes. By integrating and examining transcriptomic data on a large scale, we have uncovered the true picture of this dysregulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Behavioral Sciences
Sheryl Anne D. Vermudez, Rocco G. Gogliotti, Bright Arthur, Aditi Buch, Clarissa Morales, Yuta Moxley, Hemangi Rajpal, P. Jeffrey Conn, Colleen M. Niswender
Summary: This study found that introducing a wild-type MECP2 transgene in a RTT mouse model can reverse most RTT-like phenotypes, but may have adverse effects in some cases due to the hypomorphic R133C mutation. The results suggest that personalized approaches may be important for evaluating the safety and efficacy of MeCP2-targeted therapies.
GENES BRAIN AND BEHAVIOR
(2022)
Article
Genetics & Heredity
Keiko Akahoshi, Eiji Nakagawa, Yu-ichi Goto, Ken Inoue
Summary: This article reports a case of a 17-year-old boy with a 1.2 Mb duplication distal to MECP2 on chromosome Xq28. Although this region does not contain MECP2, the clinical features and course of the boy are remarkably similar to those observed in MECP2 duplication syndrome. This study suggests that MECP2 may not explain all symptoms of duplication in the distal part of Xq28.
BMC MEDICAL GENOMICS
(2023)
Review
Neurosciences
Changuk Chung, Wangyong Shin, Eunjoon Kim
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social and repetitive symptoms. Studies in mouse models have shown early pathophysiological mechanisms that can be corrected to prevent phenotypic defects in adulthood. Additionally, gene restorations have demonstrated the rescue of ASD-related phenotypes even after the brain has fully matured.
BIOLOGICAL PSYCHIATRY
(2022)
Review
Biochemistry & Molecular Biology
Santosh R. D'Mello
Summary: MECP2 duplication syndrome is a rare X-linked genomic disorder that predominantly affects males with no available treatments. It causes neurodegenerative disease leading to neuronal death in specific brain regions, possibly involving dysfunction of astrocytes and neurons.
JOURNAL OF NEUROCHEMISTRY
(2021)
Review
Genetics & Heredity
Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, Helen Leonard
Summary: MECP2 duplication syndrome is a rare neurodevelopmental disorder caused by a duplication of the MECP2 gene. It shares clinical overlap with Rett syndrome. Further research and international data collection are needed to better understand this disorder.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Clinical Neurology
Joni N. N. Saby, Sarika U. U. Peters, Timothy A. A. Benke, Shannon M. M. Standridge, Lindsay C. C. Swanson, David N. N. Lieberman, Heather E. E. Olson, Alexandra P. P. Key, Alan K. K. Percy, Jeffrey L. L. Neul, Charles A. A. Nelson, Timothy P. L. Roberts, Eric D. D. Marsh
Summary: This study compared the clinical severity of MECP2 duplication syndrome, FOXG1 syndrome, Rett syndrome, and CDKL5 deficiency disorder by measuring visual and auditory evoked potentials. The results showed that visual evoked potential amplitude correlated with clinical severity in Rett syndrome and FOXG1 syndrome, while auditory evoked potential latency correlated with severity in CDKL5 deficiency disorder, MECP2 duplication syndrome, and FOXG1 syndrome.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2023)
Article
Pediatrics
Daniel Ta, Jenny Downs, Gareth Baynam, Andrew Wilson, Peter Richmond, Helen Leonard
Summary: This study is the largest to date on MECP2 duplication syndrome (MDS), providing insights into the characteristics and medical comorbidities of the disorder. Results show higher incidences of respiratory and gastrointestinal conditions in males compared to females. The study also highlights urinary retention as a previously unreported feature that requires further investigation.
Article
Genetics & Heredity
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstrong
Summary: This study characterized the molecular alterations in patients with Rett syndrome (RTT) using a combination of transcriptomics and proteomics analyses. The results identified specific molecular changes in cellular functions and pathways that may contribute to the disease phenotype in RTT patients. Additionally, comparisons with other related disorders provided insights into potential therapeutic targets and molecular processes underlying different genetic etiologies.
Article
Orthopedics
Bidzina Kanashvili, Kenneth J. Rogers, Michael Wade Shrader, Freeman Miller, Kirk W. Dabney, Jason J. Howard
Summary: This study reported the prevalence and risk factors of hip displacement (HD) in MECP2 disorders, showing that risk factors for HD include nonwalker status, scoliosis, and refractory epilepsy. The results can be used to develop hip surveillance programs for MECP2 disorders.
JOURNAL OF PEDIATRIC ORTHOPAEDICS
(2021)
Article
Medicine, Research & Experimental
Magdalena Budisteanu, Emanuela Andrei, Florentina Linca, Diana Stefania Hulea, Alexandra Catalina Velicu, Ilinca Mihailescu, Sorin Riga, Aurora Arghir, Sorina Mihaela Papuc, Carmen Adella Sirbu, Marian Mitrica, Any Docu-Axelerad, Minerva Claudia Ghinescu, Iuliana Dobrescu, Florina Rad
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2020)
Review
Genetics & Heredity
Aurora Arghir, Roxana Popescu, Irina Resmerita, Magdalena Budisteanu, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Monica Cristina Panzaru, Sorina Mihaela Papuc, Adriana Sireteanu, Andreea Tutulan-Cunita, Cristina Rusu
Summary: Pallister-Killian syndrome is a rare disorder characterized by distinctive facial features and various symptoms. Diagnosis can be reliably made using MLPA or array CGH, and it is important to be aware of uncommon symptoms and characteristics associated with the syndrome.
Article
Genetics & Heredity
Sorina Mihaela Papuc, Alina Erbescu, Diana Cisleanu, Diana Ozunu, Cristina Enache, Ion Dumitru, Elena Lupoaia Andrus, Mihaela Gaman, Viola Maria Popov, Maria Dobre, Oana Stanca, Silvana Angelescu, Nicoleta Berbec, Andrei Colita, Ana-Maria Vladareanu, Horia Bumbea, Aurora Arghir
Summary: Integration of multiple investigative strategies increases the detection yield of genetic defects with potential clinical relevance, providing insights for personalized treatment of AML patients.
Article
Genetics & Heredity
Magdalena Budisteanu, Sorina Mihaela Papuc, Ioana Streata, Mihai Cucu, Andrei Pirvu, Simona Serban-Sosoi, Alina Erbescu, Emanuela Andrei, Catrinel Iliescu, Doina Ioana, Emilia Severin, Mihai Ioana, Aurora Arghir
Summary: Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations, ranging from normal to various neuropsychiatric conditions. The smallest region of overlap for these duplications involves the CHRNA7 gene. Clinical features in patients with 15q13.3 microduplications commonly include speech delay, autistic behavior, muscle hypotonia, and in some cases, epilepsy and EEG anomalies.
Article
Medicine, Research & Experimental
Magdalena Budisteanu, Sorina Papuc, Alina Erbescu, Catrinel Iliescu, Maria Dobre, Diana Barca, Oana Tarta-Arsene, Cristina Motoescu, Alice Dica, Carmen Sandu, Cristina Anghelescu, Dana Craiu, Aurora Arghir
Summary: Brain heterotopia is a rare malformation with a wide range of symptoms, caused by both genetic and environmental factors. A study on a group of pediatric patients revealed a high frequency of epileptic seizures and developmental delay, as well as a previously unreported 22q11.2 microduplication anomaly.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2022)
Article
Psychology, Developmental
Quentin Guillon, Sophie Baduel, Alvaro Bejarano-Martin, Ricardo Canal-Bedia, Maria Magan-Maganto, Clara Fernandez-Alvarez, Maria Victoria Martin-Cilleros, Maria Cruz Sanchez-Gomez, Patricia Garcia-Primo, Mary Rose-Sweeney, Andrew Boilson, Renata Linertova, Herbert Roeyers, Sara Van der Paelt, Diana Schendel, Christine Kloster Warberg, Susanne Cramer, Antonio Narzisi, Filippo Muratori, Maria Luisa Scattoni, Irma Moilanen, Anneli Yliherva, Evald Saemundsen, Sigridur Loa Jonsdottir, Magdalena Efrim-Budisteanu, Aurora Arghir, Sorina Mihaela Papuc, Astrid Vicente, Celia Rasga, Johanna Xenia Kafka, Luise Poustka, Oswald D. Kothgassner, Rafal Kawa, Ewa Pisula, Tracey Sellers, Manuel Posada de la Paz, Bernadette Roge
Summary: This study investigates the satisfaction with the detection process of autism in young children and its determinants. The level of satisfaction varies greatly among individuals, with professional guidance and support in response to first concerns being the most important predictor. These findings highlight the need to improve the detection process and guide health administrations in taking appropriate actions.
Article
Genetics & Heredity
Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir
Summary: Orofaciodigital syndrome I (OFD1) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. Previous studies have mainly reported this X-linked dominant disorder in females. The OFD1 gene is responsible for primary cilia formation and plays a role in various biological processes. The study highlights the potential link between cilia and neurodevelopmental disorders, such as autism, and suggests the need for active screening in OFD1 syndrome patients.
Review
Medicine, General & Internal
Aurora Arghir, Sorina Mihaela Papuc, Andreea-Cristina Tutulan-Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Summary: Interstitial 8p deletions have been previously reported in about 30 patients with neurodevelopmental disorders. This study introduces a new patient with a 8p21.2p11.21 deletion, presenting clinical features such as severe intellectual disability, microcephaly, epilepsy, and autism, a rare association with this genetic defect.
CLINICAL CASE REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Alina Nicolescu, Daniela Blanita, Chiril Boiciuc, Victoria Hlistun, Mihaela Cristea, Dorina Rotaru, Ludmila Pinzari, Ana Oglinda, Adela Stamati, Isabela Tarcomnicu, Andreea Tutulan-Cunita, Danae Stambouli, Sergiu Gladun, Ninel Revenco, Natalia Usurelu, Calin Deleanu
Correction
Psychology, Developmental
Alvaro Bejarano-Martin, Ricardo Canal-Bedia, Maria Magan-Maganto, Clara Fernandez-Alvarez, Maria Victoria Martin-Cilleros, Maria Cruz Sanchez-Gomez, Patricia Garcia-Primo, Mary Rose-Sweeney, Andrew Boilson, Renata Linertova, Herbert Roeyers, Sara Van der Paelt, Diana Schendel, Christine Warberg, Susanne Cramer, Antonio Narzisi, Filippo Muratori, Maria Luisa Scattoni, Irma Moilanen, Anneli Yliherva, Evald Saemundsen, Sigridur Loa Jonsdottir, Magdalena Efrim-Budisteanu, Aurora Arghir, Sorina Mihaela Papuc, Astrid Vicente, Celia Rasga, Bernadette Roge, Quentin Guillon, Sophie Baduel, Johanna Xenia Kafka, Luise Poustka, Oswald D. Kothgassner, Rafal Kawa, Ewa Pisula, Tracey Sellers, Manuel Posada de la Paz
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2020)
