Article
Genetics & Heredity
Sara H. Sadok, Rayssa L. Borges-Medeiros, Danyllo F. de Oliveira, Mayana Zatz, Joao Dicardo Mendes de Oliveira
Summary: This study reports a young patient with bilateral and symmetrical brain calcification and neuropsychiatric symptoms. Whole-exome sequencing revealed a novel homozygous MYORG variant, which is predicted to be disease-causing. This finding expands our knowledge of the genetic basis of primary familial brain calcifications.
Article
Genetics & Heredity
Yi-Heng Zeng, Bi-Wei Lin, Hui-Zhen Su, Xin-Xin Guo, Yun-Lu Li, Lu-Lu Lai, Wan-Jin Chen, Miao Zhao, Xiang-Ping Yao
Summary: The study revealed a link between MYORG gene mutations and PFBC in Chinese patients, with affected individuals showing a consistent clinical spectrum including brain calcification and parkinsonism. Novel MYORG variants were identified, expanding the understanding of genetic and phenotypic diversity in PFBC-MYORG.
FRONTIERS IN GENETICS
(2021)
Article
Neurosciences
Miao Zhao, Xiao-Hong Lin, Yi-Heng Zeng, Hui-Zhen Su, Chong Wang, Kang Yang, Yi-Kun Chen, Bi-Wei Lin, Xiang-Ping Yao, Wan-Jin Chen
Summary: In this study, we established a novel animal model for PFBC by knocking down the myorg gene in zebrafish, and observed calcifications in the brain, providing further insights into the phenotype of the Myorg-KO mouse model.
Review
Genetics & Heredity
Tianxue Zhao, Shaokun Xu, Siyue Liu, Juan Xu, Xianfeng Zhang, Yuhong Zhan
Summary: This study summarizes the clinical and radiological characteristics of a PFBC patient with a MYORG gene variant and conducted a mutational analysis of MYORG in her family members. All patients with primary brain calcification, particularly younger patients without a family history of the disease, should be screened for MYORG mutations.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Review
Clinical Neurology
Tingwei Song, Yuwen Zhao, Guo Wen, Juan Du, Qian Xu
Summary: This case involves a 24-year-old woman with autosomal recessive primary familial brain calcification (AR-PFBC) associated with the MYORG gene mutation. The patient presented with migraine at 16 years old, and brain calcifications were observed in bilateral cerebellopontine nuclei, thalamus, basal ganglia, and radiocoronal area. This case highlights the pathological profile of the MYORG gene and emphasizes the importance of excluding brain calcifications in migraine patients with AR inheritance.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Liang Gao, Jin Chen, Huifang Dong, Xiaobing Li
Summary: This study reported a young patient with primary familial brain calcification (PFBC) carrying a novel homozygous mutation in the MYORG gene and presenting with cerebral infarction involving the posterior limb of the right internal capsule.
INTERNATIONAL JOURNAL OF NEUROSCIENCE
(2022)
Article
Clinical Neurology
Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault, Valerie Risson, Julien Carras, Laurent Coudert, Thomas Simonet, Philippe Latour, Tanya Stojkovic, Juliette Piard, Anne Cosson, Gaetan Lesca, Francoise Bouhour, Stephane Allouche, Helene Puccio, Antoine Pegat, Laurent Schaeffer
Summary: Jacquier et al. identified a homozygous variant in the COQ7 gene in a family with distal hereditary motor neuropathy. This variant leads to a decrease in coenzyme Q10 production, causing impaired mitochondrial metabolism. Coenzyme Q10 supplementation may serve as a potential treatment for this disorder.
Article
Medicine, General & Internal
Bei-Ni Fei, Hui-Zhen Su, Xiang-Ping Yao, Jing Ding, Xin Wang
Summary: Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain regions. Detection of MYORG mutation is crucial for better understanding and potential treatments, especially in patients without an obvious family history.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Biology
Keziban Yazici, Betul Goenuelkirmaz, Mehtap Sahin Cevik
Summary: In this study, molecular markers associated with seed hardness in pomegranates were developed to distinguish soft-seeded cultivars. These markers enable quick and accurate identification of soft-seeded pomegranate varieties, meeting the market demand.
Article
Genetics & Heredity
Xiaochun Huang, Wenting Wu, Liwen Su, Haixuan Lv, Zhikui Cheng, Wenrui Yang, Lifeng Nong, Ting Liu, Yong Chen, Peng Wang, Zhengguo Liu
Summary: In this study, InDel markers linked to fruit-shape and peel-colour genes of wax gourd were developed and evaluated. The results showed that these markers exhibited high accuracy rates and could be used for genetic linkage map construction, molecular-marker-assisted selective breeding, and purity determination of wax gourd hybrids.
Article
Oncology
Qijie Yang, Jian Li, Bin Jiao, Ling Weng
Summary: Primary familial brain calcification (PFBC) is a genetically heterogeneous disease characterized by extensive intracranial calcium deposition, with pathogenic variants in six genes associated with the condition. PFBC patients may present with various symptoms, including movement disorders, cognitive impairment, and psychiatric symptoms, with acute cerebrovascular attacks being rare. This case report highlights a PFBC patient with a novel compound heterozygous mutation in MYORG who experienced an acute ischemic stroke, emphasizing the need for further exploration of the association between acute ischemic strokes and PFBC.
ANNALS OF TRANSLATIONAL MEDICINE
(2022)
Article
Pediatrics
Tameemi Abdallah Moady, Marwan Odeh, Ayalla Fedida, Zvi Segal, Maayan Gruber, Moshe Goldfeld, Limor Kalfon, Tzipora C. Falik-Zaccai
Summary: This article describes a new case with a novel pathogenic variant in the JAM3 gene, presenting prenatal and postnatal phenotype. The patient presented with cataracts and brain anomalies in prenatal stage, and with brain hemorrhages, failure to thrive, progressive microcephaly, recurrent posterior capsule opacities, and auditory neuropathy in postnatal stage.
FRONTIERS IN PEDIATRICS
(2023)
Article
Biochemistry & Molecular Biology
Audrey Laurain, Isabelle Rubera, Micheline Razzouk-Cadet, Stephanie Bonnafous, Miguel Albuquerque, Valerie Paradis, Stephanie Patouraux, Christophe Duranton, Olivier Lesaux, Georges Leftheriotis, Albert Tran, Rodolphe Anty, Philippe Gual, Antonio Iannelli, Guillaume Favre
Summary: Liver fibrosis is associated with arterial calcification. Plasma inorganic pyrophosphate (PPi) levels are correlated with liver fibrosis, liver function, and arterial calcification. Liver transplantation can restore serum albumin levels and PPi levels.
Article
Clinical Neurology
Ruoyi Ishikawa, Masahiro Nakamori, Megumi Takenaka, Shiro Aoki, Yu Yamazaki, Akihiro Hashiguchi, Hiroshi Takashima, Hirofumi Maruyama
Summary: This article reports a case of mitochondrial trifunctional protein (MTP) deficiency caused by impaired metabolism of long-chain fatty acids (LCFAs). The patient presented with peripheral neuropathy and demyelination of the central nervous system (CNS), and the diagnosis of MTP deficiency was confirmed through genetic examination. Treatment with L-carnitine and a medium-chain fatty triglyceride diet resulted in a retardation of higher brain dysfunction.
FRONTIERS IN NEUROLOGY
(2023)
Review
Clinical Neurology
Leman Tekin Orgun, Seyda Besen, Ozlem Sangun, Atil Bisgin, Ozlem Alkan, Ilknur Erol
Summary: Variants in the MYORG gene are associated with AR-PFBC, with 74 cases evaluated so far. Patients present with a wide range of ages and commonly exhibit speech impairment, movement disorder, and cerebellar signs, along with basal ganglia calcification.
BRAIN & DEVELOPMENT
(2021)
Letter
Clinical Neurology
Laura Durao Ferreira, Rayssa L. Borges-Medeiros, Joao Ricardo M. de Oliveira
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2017)
Article
Parasitology
Valdemir Vicente da Silva Junior, Laura Durao Ferreira, Lilian Rodrigues Alves, Adriane Borges Cabral, Paula Regina Luna de Araujo Jacome, Paulo Sergio Ramos de Araujo, Ana Catarina de Souza Lopes, Maria Amelia Vieira Maciel
REVISTA DA SOCIEDADE BRASILEIRA DE MEDICINA TROPICAL
(2017)
Article
Clinical Neurology
Laura Durao Ferreira, Joao Ricardo Mendes de Oliveira
JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES
(2018)
Article
Biochemistry & Molecular Biology
Rayssa Leal Borges-Medeiros, Laura Durao Ferreira, Joao Ricardo Mendes de Oliveira
JOURNAL OF MOLECULAR NEUROSCIENCE
(2019)
Article
Genetics & Heredity
Laura D. Ferreira, Rayssa L. Borges-Medeiros, Jenny Thies, Rhonda E. Schnur, Christina Lam, Joao R. M. de Oliveira
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2019)
Article
Biochemistry & Molecular Biology
Laura D. Ferreira, Joao Ricardo M. de Oliveira
JOURNAL OF MOLECULAR NEUROSCIENCE
(2020)
Article
Biochemistry & Molecular Biology
Laura D. Ferreira, Gabriela F. Leal, Joao Ricardo Mendes de Oliveira
Summary: This case report highlights a mild non-lethal form of Raine syndrome in a 14-year-old Brazilian patient, characterized by mild facial dysmorphia, bilateral brain calcifications, and oro-dental abnormalities. The patient carries a homozygous missense variant in FAM20C, with important implications for phenotype comparison and understanding the phenotypic spectrum of this condition.
JOURNAL OF MOLECULAR NEUROSCIENCE
(2021)
