Review
Neurosciences
Michelle W. Antoine
Summary: Autism Spectrum Disorder (ASD), Rett syndrome (RTT), and Angelman Syndrome (AS) are neurodevelopmental disorders (NDDs) that share clinical characteristics and exhibit deficits in synaptic excitation transmission instead of excessive excitation.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Genetics & Heredity
Dianalee McKnight, Lora Bean, Izabela Karbassi, Katelynn Beattie, Thierry Bienvenu, Hope Bonin, Ping Fang, John Chrisodoulou, Michael Friez, Maria Helgeson, Rahul Krishnaraj, Linyan Meng, Lindsey Mighion, Jeffrey Neul, Alan Percy, Simon Ramsden, Huda Zoghbi, Soma Das
Summary: The Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) provided customized variant interpretation criteria for genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4, which led to high consistency in interpretation among multiple curators. 13 variants had classification changes when assessed using the modified guidelines.
Article
Medicine, General & Internal
David E. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker, Minh Bui, Michael J. Field, Carolyn Rogers, Merlin G. Butler, Alessandra Murgia, Emanuela Leonardi, Roberta Polli, Charles E. Schwartz, Cindy D. Skinner, Angelica M. Alliende, Lorena Santa Maria, James Pitt, Ronda Greaves, David Francis, Ralph Oertel, Min Wang, Cas Simons, David J. Amor
Summary: The findings of this study suggest that screening for all chromosome 15 imprinting disorders using SNRPN methylation analysis is feasible, with 5 individuals identified out of 16,579 infants screened.
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)
Review
Developmental Biology
Can Ozlu, Rachel M. Bailey, Sarah Sinnett, Kimberly D. Goodspeed
Summary: Neurodevelopmental disorders (NDDs) encompass a range of disorders disrupting normal brain development, with many being caused by genetic variants impacting neuronal development. Current treatment options for NDDs focus on symptom management, but gene therapy using AAVs shows promise for future treatment. Further research into the unique advantages and challenges of AAV gene therapies is essential for addressing the lifelong burden NDDs place on individuals and families.
DEVELOPMENTAL NEUROSCIENCE
(2021)
Editorial Material
Clinical Neurology
Gomathi Mohan, Geetha Bharathi, Balachandar Vellingiri
Summary: A 42-year-old woman presented with clinical features of microcephaly, short stature, intellectual disability, severe degree of scoliosis, gait abnormality, and encephalopathy. Further diagnosis and treatment are needed for this patient.
Article
Pediatrics
Davide Mattei, Paolo Cavarzere, Rossella Gaudino, Franco Antoniazzi, Giorgio Piacentini
Summary: KBG syndrome should be considered in cases with characteristic dysmorphic features, intellectual disability, seizures, and hearing problems, as it often presents with adult short stature and a wide spectrum of clinical phenotypes.
ITALIAN JOURNAL OF PEDIATRICS
(2021)
Article
Biochemistry & Molecular Biology
Anna Adhikari, Fiona K. B. Buchanan, Timothy A. Fenton, David L. Cameron, Julian A. N. M. Halmai, Nycole A. Copping, Kyle D. Fink, Jill L. Silverman
Summary: CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder caused by mutations on the X chromosome. It is characterized by intellectual disability, seizures, and sleep disruption, primarily affecting females. Studies have shown that behavioral phenotypes similar to clinical manifestations in humans, including learning and memory impairments, hyperactivity, and increased susceptibility to seizures, can be observed in CDD mouse models.
HUMAN MOLECULAR GENETICS
(2022)
Article
Genetics & Heredity
Cristiane Sa Roriz Fonteles, Francisco Cesar Monteiro Filho, Rebeca Bastos Vasconcelos, Andre Jalles Monteiro, Cauby Maia Chaves Junior, Felipe Franco Marcal, Renata Asfor Rocha Carvalho Martins, Ana Lalessa Pereira de Oliveira, Grisielle de Sa Cavalcante, Bianca Palhano Toscano, Thayse Elaine Costa Figueiredo Lopes, Fabio Wildson Gurgel Costa, Thyciana Rodrigues Ribeiro, Islane Maria Castro Vercosa, Andre Luiz Santos Pessoa, Luciano Pamplona de Goes Cavalcanti, Erlane Marques Ribeiro
Summary: The study evaluated the facial dysmorphisms of children with Congenital Zika syndrome (CZS) and found specific features such as broad faces, decreased intercanthal distance, short posterior nasal length, prominent nasal root, broad nasal wings, and high-set and long ears. The increased chin height index provided the most accurate diagnostic potential for CZS.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Review
Biochemistry & Molecular Biology
Clara Xiol, Maria Heredia, Ainhoa Pascual-Alonso, Alfonso Oyarzabal, Judith Armstrong
Summary: Rett syndrome (RTT) is a severe neurodevelopmental disorder with great genetic heterogeneity, evolving towards a spectrum of overlapping phenotypes. To achieve fast and accurate genetic diagnosis, simultaneous multiple gene testing and thorough phenotypic characterization are mandatory. Recent technological advancements, such as whole genome sequencing and omics integration, will contribute to increasing diagnostic yield and expanding knowledge on the pathophysiology of these disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biology
Claudia Dolci, Antonello E. Rigamonti, Annalisa Cappella, Daniele M. Gibelli, Graziano Grugni, Diana Caroli, Chiarella Sforza, Alessandro Sartorio
Summary: This study aimed to explore the relationships between facial dysmorphism in Prader-Willi syndrome (PWS) and clinical and biochemical markers of the disease and its treatment. It found that certain facial characteristics could serve as distinctive features for diagnosing PWS, while other facial characteristics showed associations with clinical and biochemical markers, suggesting their potential usefulness in the clinical monitoring and management of the disease. Further studies are needed to confirm these findings.
Article
Multidisciplinary Sciences
Lilach Simchi, Hanoch Kaphzan
Summary: This study examined affiliative and aggressive social behavior in AS mice, finding unique characteristics in social stimulus habituation and significantly enhanced aggression compared to their WT littermates. The findings highlight the use of AS mouse model for characterizing and measuring inappropriate aggressive behavior, suggesting potential therapeutic interventions.
SCIENTIFIC REPORTS
(2021)
Review
Genetics & Heredity
Carlotta Spagnoli, Carlo Fusco, Francesco Pisani
Summary: The clinical application of next-generation-sequencing-based techniques has revealed increased genetic heterogeneity in the Rett syndrome spectrum (RSS) and overlapping with pediatric-onset epilepsies and epileptic/developmental encephalopathies (EE/DE) genes. The presence of commonalities with variable clinical features has drawn renewed attention into deep phenotyping.
Article
Pharmacology & Pharmacy
Yu-Tung Lai, Chung-Yu Chen, Ming-Jong Bair
Summary: The study revealed a decreasing trend in the incidence and prevalence of IBS in Taiwan from 2012 to 2018, with over 70% of patients receiving treatment and antispasmodics being the most commonly prescribed medication. However, only 48.58% of patients returned for a follow-up visit within 1 year of IBS diagnosis.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Lei Wei, Xiaonan Du, Zidong Yang, Ming Ding, Baofeng Yang, Ji Wang, Shasha Long, Zhongwei Qiao, Yonghui Jiang, Yi Wang, He Wang
Summary: This study investigated the local and global alterations of white matter in patients with Angelman syndrome (AS). The results showed that AS patients had diminished connectivity in the brain and reduced network efficiency compared to healthy controls.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)