Case Report: A case of Tatton-Brown–Rahman syndrome featuring mitral annular disjunction and mitral valve prolapse due to a novel mutation site in the DNMT3A gene by Zhong-jiao Xu, Ru-ming Shen, Wu-ming Hu, Lin-chun Lv, Zhen-hua Shi, Li Lin

“…These symptoms suggested a possible genetic disorder. High-throughput sequencing revealed a specific mutation in the DNMT3A gene (NM_175629.2:c.2408 + 1G > A) associated with Tatton-Brown–Rahman syndrome. …”
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A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance by Christian Grønhøj Larsen, Mette Gyldenløve, Aia Elise Jønch, Birgitte Charabi, Zeynep Tümer

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Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum by Meredith Wasserman, Erin M. Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos

“…Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. …”
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Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene by Gustavo Fernandes, Mirela Souto, Frederico Costa, Edite Oliveira, Bernardo Garicochea

“…Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin. …”
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Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants by Si-Hua Chang, Jie-Yuan Jin, Yi-Qiao Hu, Run-Yan Wang, Rong Xiang, Xia Wang

“…MRXSHG is a serious disorder with CNKSR2 variant and at least 34 variants have been identified in MRXSHG patients. …”
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Age-related cerebral ventriculomegaly occurs in patients with primary ciliary dyskinesia by Franziska Eisenhuth, Joy E. Agbonze, Adam M. R. Groh, Jesse M. Klostranec, David A. Rudko, Jo Anne Stratton, Adam J. Shapiro

“…Abstract Primary ciliary dyskinesia (PCD) is a genetic disorder causing motile ciliary dysfunction primarily affecting the respiratory and reproductive systems. …”
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Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association by Shaikha Aldossari, Amani Al Bakri, Yumna Kamal

“…Neurological exam showed paraparesis and moving upper extremities and has axial hypotonia. Genetic testing showed CYP1B1 gene mutation. Conclusion. …”
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Association between wide-ranging food intake and Parkinson’s disease: a comprehensive mendelian randomization study by Yana Su, Yulei Hao, Wanhui Dong, Ruqing Qiu, Ying Zhang

“…Abstract Parkinson’s disease (PD) is a complex neurodegenerative disorder influenced by both genetic and environmental factors, including dietary habits. …”
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Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature by Francesca Torresan, Maurizio Iacobone

“…Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by parathyroid tumors in association with fibro-osseous jaw tumors and uterine and renal lesions. …”
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Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review by Le Jiang, Dongmei Li, Qiansha Guo, Yunfeng Li, Lei Zan, Rihan Ao

“…Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. …”
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Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature by Bingzi Dong, Wenshan Lv, Lili Xu, Yuhang Zhao, Xiaofang Sun, Zhongchao Wang, Bingfei Cheng, Zhengju Fu, Yangang Wang

“…X-linked adrenoleukodystrophy (ALD) is an inherited peroxisomal metabolism disorder, resulting from the loss-of-function mutation of ATP-binding cassette protein subfamily D1 (ABCD1) gene. …”
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Epigenetic and Neurological Impairments Associated with Early Life Exposure to Persistent Organic Pollutants by Nathalie Grova, Henri Schroeder, Jean-Luc Olivier, Jonathan D. Turner

“…Epidemiological studies have associated environmentally persistent organic pollutant exposure to brain disorders including neuropathies, cognitive, motor, and sensory impairments; neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD); and neurodegenerative diseases including Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis (ALS). …”
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The Bipolar Depression Electrical Treatment Trial (BETTER): Design, Rationale, and Objectives of a Randomized, Sham-Controlled Trial and Data from the Pilot Study Phase by Bernardo de Sampaio Pereira Junior, Gabriel Tortella, Beny Lafer, Paula Nunes, Isabela Martins Benseñor, Paulo Andrade Lotufo, Rodrigo Machado-Vieira, André R. Brunoni

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HEMPSEED AND COTTONSEED OILS IN THE ACCESSIONS FROM THE VIR COLLECTION AS SOURCES OF FUNCTIONAL FOOD INGREDIENTS by S. V. Grigoryev, T. V. Shelenga, K. V. Illarionova

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Role of apoptosis genes in aggression revealed using combined analysis of ANDSystem gene networks, expression and genomic data in grey rats with aggressive behavior by A. O. Bragin, O. V. Saik, I. V. Chadaeva, P. S. Demenkov, A. L. Markel, Yu. L. Orlov, E. I.  Rogaev, I. N. Lavrik, V. A. Ivanisenko

“…Increased aggression is observed in a number of diseases ( schizophrenia, bipolar disorder, brain degenerative disorders). Neuronal apoptosis is crucial in the maintenance of developmental processes during neurogenesis. …”
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Managing Scoliosis in a Young Child with Rett Syndrome: A Case Study by Meir Lotan, Joav Merrick, Eli Carmeli

“…Rett syndrome is a genetic disorder primarily affecting females. One of its most disabling features is the severe and rapid progression of scoliosis. …”
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Physiotherapy and Rehabilitation in a Child with Joubert Syndrome by Özge İpek, Özge Akyolcu, Banu Bayar

“…Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. …”
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Case report of familial hypercholesterolemia with internal carotid neck swelling by Sudesh Kumar, Prajna Ray, Ranita Sahana

“…This case highlights the significance of conscious and proactive genetic screening for familial hypercholesterolemia especially in consanguineous marriage, to diagnose, treat and prevent mortality with premature coronary artery disease.…”
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Towards a Molecular Understanding of the Fanconi Anemia Core Complex by Charlotte Hodson, Helen Walden

“…Fanconi Anemia (FA) is a genetic disorder characterized by the inability of patient cells to repair DNA damage caused by interstrand crosslinking agents. …”
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