Article
Cell Biology
Peihong Liu, Jiaxuan Li, Linghao Tang, Wei Cong, Han Jin, Hong Zhang, Bing Cui, Shan Yang, Jing Xiao, Chao Liu, Wuliji Saiyin
Summary: This study reveals that mutations in FAM20C primarily cause hypophosphatemia rickets or osteomalacia, and the skeletal manifestation of Rainne syndrome is influenced by other factors.
JOURNAL OF CELLULAR PHYSIOLOGY
(2023)
Article
Neurosciences
Hua Zhang, Yongbo Lu, Phillip R. Kramer, M. Douglas Benson, Yi-Shing L. Cheng, Chunlin Qin
Summary: FAM20C is a protein kinase that phosphorylates secretory proteins and its loss-of-function mutations cause Raine syndrome in humans. In this study, the expression of Fam20c in mouse brain tissue was examined and brain calcification was investigated in Fam20c-deficient mice. The results showed that the global and brain-specific deletion of Fam20c led to brain calcification, suggesting that FAM20C plays an essential role in maintaining normal brain homeostasis and preventing ectopic brain calcification.
NEUROSCIENCE LETTERS
(2023)
Article
Genetics & Heredity
Camelia Chirtes, Alina Boglis, Andrea Toth, Corina Rac, Claudia Banescu
Summary: Raine syndrome is a congenital disorder caused by mutations in the FAM20C gene. It is characterized by typical facial dysmorphism, generalized osteosclerosis, and other possible symptoms such as intracranial calcification, hearing loss, and seizures. We report a severe case of Raine syndrome in a non-consanguineous family, with the patient exhibiting distinct facial dysmorphism, short neck, narrow chest, and curved tibia. Genetic testing confirmed two variants in the FAM20C gene, one pathogenic and one likely pathogenic, in both the patient and the parents.
FRONTIERS IN GENETICS
(2023)
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)
Article
Genetics & Heredity
Nazan Eras, Yalcin Celik
Summary: A novel homozygous variant in the FAM20C gene was identified in this study, expanding the spectrum of nonlethal Raine syndrome phenotype and contributing to a better understanding of how these disorders develop and progress, which is particularly valuable for rare diseases where information is limited.
MOLECULAR SYNDROMOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Icela Palma-Lara, Monserrat Perez-Ramirez, Patricia Garcia Alonso-Themann, Ana Maria Espinosa-Garcia, Ricardo Godinez-Aguilar, Jose Bonilla-Delgado, Adolfo Lopez-Ornelas, Georgina Victoria-Acosta, Maria Guadalupe Olguin-Garcia, Jose Moreno, Carmen Palacios-Reyes
Summary: FAM20C gene codes for a protein kinase that targets specific motifs on phosphoproteins in diverse tissues. Pathogenic variants of FAM20C cause Raine syndrome, characterized by atherosclerosis, bone formation, facial dysmorphisms and intracerebral calcifications. This review provides an overview of FAM20C targets and variants, as well as the clinical aspects of lethal and non-lethal RS cases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Xuelong Li, Heng Du, Wenjie Yang, Junru Chen, Xianliang Li, Xiangyan Chen
Summary: The study revealed that impaired renal function was independently associated with a higher degree of calcification in intracranial arteries, especially medial calcification, showing a distinction between two types of arterial calcification and suggesting the possibility of specific prevention for lesion formation.
Review
Clinical Neurology
Gianna M. M. Fote, Sophia Raefsky, Kelton Mock, Amit Chaudhari, Mohammad Shafie, Wengui Yu
Summary: This review examines the pathophysiology and prevalence of intracranial artery calcifications (IAC), and the current evidence suggesting that IAC may be a useful tool for predicting stroke incidence, recurrence, and assessing the response to acute ischemic stroke therapy.
FRONTIERS IN NEUROLOGY
(2022)
Review
Neurosciences
Redi Rahmani, Jacob F. Baranoski, Felipe C. Albuquerque, Michael T. Lawton, Tomoki Hashimoto
Summary: This article discusses the detection methods, pathophysiology, and clinical implications of aneurysm calcification, suggesting that calcification may play an important role in the life cycle of aneurysms and a biomarker for this process may be discovered as imaging methods improve.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Clinical Neurology
Heng Du, Jia Li, Wenjie Yang, Daniel Bos, Lu Zheng, Lawrence Ka Sing Wong, Thomas W. Leung, Xiangyan Chen
Summary: This study compared the characteristics of intracranial arterial calcification (IAC) in different layers of the artery and its association with atherosclerotic disease. The results showed that intimal IAC was more often accompanied by luminal stenosis, larger plaque burden, eccentricity, and intraplaque hemorrhage (IPH) compared to medial IAC. These findings provide strong evidence for clinical evaluation of the mechanism, risk, and prognosis of ischemic stroke.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Davide Tonduti, Anna Pichiecchio, Carla Uggetti, Stefania Maria Bova, Simona Orcesi, Cecilia Parazzini, Luisa Chiapparini
Summary: The study found that in pediatric neurology, SWI sequence in MRI is the best method to detect ICC, and sometimes CT scanning can be avoided; while in cases where identification or monitoring of ICC is unlikely to provide useful information for patient's follow-up or treatment, not performing CT scanning is recommended.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Tim C. van den Beukel, Frank J. Wolters, Uwe Siebert, Wilko Spiering, M. Arfan Ikram, Meike W. Vernooij, Pim A. de Jong, Daniel Bos
Summary: This study found that intracranial arteriosclerosis is associated with an increased risk of dementia, and this association is partly mediated by an increase in cerebral small vessel disease.
ALZHEIMERS & DEMENTIA
(2023)
Article
Biochemistry & Molecular Biology
Xiaoying Ma, Yuping Sheng, Xingmeng Yang, Na Wang, Haoran Zhang, Haiping Xu, Fuyun Sun
Summary: The expression of mir-29a-5p, osteosclerotin, and fetuin-A were analyzed in patients with chronic kidney disease and their correlation with vascular calcification. Results showed that there was an increased expression of mir-29a-5p and osteosclerotin, and a decreased expression of fetuin-A in patients with chronic kidney disease. These factors were correlated with vascular calcification.
CELLULAR AND MOLECULAR BIOLOGY
(2022)
Review
Oncology
Bruno Fattizzo, Fabio Serpenti, Wilma Barcellini, Chiara Caprioli
Summary: Hypoplastic myelodysplastic syndromes (hMDS) pose a diagnostic challenge, blending features of both MDS (dysplasia, genetic lesions, cytopenias) and aplastic anemia (low cellularity, autoimmunity). There are two potential hMDS phenotypes: one proinflammatory and autoimmune, resembling AA and responding to immunosuppression; the other MDS-like, dominated by genetic lesions and prone to leukemic evolution. Personalized treatment and monitoring based on the predominant hMDS phenotype may be beneficial for patient management.
Article
Biochemistry & Molecular Biology
Icela Palma-Lara, Patricia Garcia Alonso-Themann, Javier Perez-Duran, Ricardo Godinez-Aguilar, Jose Bonilla-Delgado, Damian Gomez-Archila, Ana Maria Espinosa-Garcia, Manuel Nolasco-Quiroga, Georgina Victoria-Acosta, Adolfo Lopez-Ornelas, Juan Carlos Serrano-Bello, Maria Guadalupe Olguin-Garcia, Carmen Palacios-Reyes
Summary: FAM20C is a protein kinase that is associated with biomineralization and phosphatemia regulation. Its deficiency can cause Raine syndrome, a bone dysplasia with hypophosphatemia. The study conducted in silico analysis to explore the potential actions of FAM20C on the brain. It identified potential brain targets and pathways related to neurologic features in Raine syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Letter
Genetics & Heredity
Mohammed Zain Seidahmed, Mustafa A. Salih, Omer Bashir Abdelbasit, Ali H. Alassiri, Khalid Al Hussein, Abeer Miqdad, Abdelmohsin Samadi, Abdallah Al Rasheed, Ibrahim A. Alorainy, Ranad Shaheen, Fowzan S. Alkuraya
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2016)
Article
Obstetrics & Gynecology
Mohamed Ibrahim Khalil, Emad R. Sagr, Rabab M. Elrifaei, Omer B. Abdelbasit, Tahany A. L. Halouly
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2013)
Review
Medicine, General & Internal
Amira Oshi, Abdullah Alfaifi, Mohammed Z. Seidahmed, Khalid Al Hussein, Abeer Miqdad, Abdelmohsin Samadi, Omar Abdelbasit
Summary: GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies, highlighting the importance of early diagnosis. This case study successfully diagnosed a rare neurometabolic disorder in a family member, leading to genetic counseling and offering pre-implantation genetic diagnosis for future pregnancies. The reporting of this case has been approved by the hospital research and ethical committee.
CLINICAL CASE REPORTS
(2021)
Article
Medicine, General & Internal
Mohammed Z. Seidahmed, Omer B. Abdelbasit, Khalid A. Alhussein, Abeer M. Miqdad, Mohammed I. Khalil, Mustafa A. Salih
SAUDI MEDICAL JOURNAL
(2014)
Article
Medicine, General & Internal
Mohammed Z. Seidahmed, Omer B. Abdelbasit, Meeralebbae M. Shaheed, Khalid A. Alhussein, Abeer M. Miqdad, Abdulmohsen S. Samadi, Mohammed I. Khalil, Elham Al-Mardawi, Mustafa A. Salih
SAUDI MEDICAL JOURNAL
(2014)
Article
Medicine, General & Internal
Mohammed Z. Seidahmed, Omar B. Abdelbasit, Meeralebbae M. Shaheed, Khalid A. Alhussein, Abeer M. Miqdad, Mohamed I. Khalil, Naif M. Al-Enazy, Mustafa A. Salih
SAUDI MEDICAL JOURNAL
(2014)
Article
Medicine, General & Internal
Abeer E. Lasheen, Omer B. Abdelbasit, Mohammed Z. Seidahmed, Khalid A. Hussein, Abeer M. Miqdad, Mohammed H. Al Zahrani, Gehan M. Farid, Haitham A. Badr
SAUDI MEDICAL JOURNAL
(2014)
Article
Genetics & Heredity
MZ Seidahmed, EA Alyamani, MS Rashed, AA Saadallah, OB Abdelbasit, MM Shaheed, A Rasheed, FA Hamid, MA Sabry
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2005)
Meeting Abstract
Pediatrics
AM Miqdad, OB Abdelbasit, MM Shaheed, SM Zain, AM Abomelha, OA Arcala
PEDIATRIC RESEARCH
(2003)
Article
Medicine, General & Internal
OB Abdelbasit, MM Shaheed, MS Al-Omari, AM Abomelha, MO Babiker
SAUDI MEDICAL JOURNAL
(2000)
Article
Clinical Neurology
L Frey, WA Hauser
