Review
Genetics & Heredity
Kinga Kozma, Marius Bembea, Claudia M. Jurca, Mihai Ioana, Ioana Streata, Simona S. Sosoi, Andrei Pirvu, Codruta D. Petchesi, Ariana Szilagyi, Cristian N. Sava, Alexandru Jurca, Aniko Ujfalusi, Zsuzsanna Szucs, Katalin Szakszon
Summary: Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by mutations in the GLI3 gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype.
Article
Genetics & Heredity
Ahmed El Mouatani, Geraldine Van Winckel, Khaoula Zaafrane-Khachnaoui, Sandra Whalen, Amale Achaiaa, Sophie Kaltenbach, Andrea Superti-Furga, Michel Vekemans, Heidi Fodstad, Fabienne Giuliano, Tania Attie-Bitach
Summary: This study reports three unrelated probands with homozygous variants in the GLI3 gene, presenting with different degrees of polydactyly, including bilateral postaxial polydactyly and bilateral mesoaxial polydactyly. These patients' parents also carried the same variants, but did not show any clinical signs of GLI3 disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Obstetrics & Gynecology
Raquel Garcia-Rodriguez, Raul Rodriguez-Rodriguez, Raquel Garcia-Delgado, Azahar Romero-Requejo, Margarita Medina-Castellano, Loida Garcia Cruz, Alfredo Santana Rodriguez, Jose Angel Garcia-Hernandez
Summary: Greig Cephalopolysyndactyly Syndrome is a rare congenital anomaly characterized by macrocephaly, ocular hypertelorism, and polysyndactyly. Prenatal diagnoses are rare, and the diagnosis is typically based on clinical findings and family background. The anomaly is associated with alterations in the GLI3 gene.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Genetics & Heredity
Rashmi Patel, Subodh Kumar Singh, Visweswar Bhattacharya, Akhtar Ali
Summary: Polydactyly is a limb malformation that can occur in various forms, including nonsyndromic and syndromic polydactyly. The study identified two novel pathogenic variants in the GLI3 gene, expanding the mutational spectrum and clinical criteria for complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome (GCPS). The pathogenic variants identified in this study resulted in reduced transcriptional activity and haploinsufficiency, contributing to the clinical phenotypes observed in the patients.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Editorial Material
Cell Biology
Dolores Planelles, Antonio Balas, Manuel Rodriguez-Cebria, Jose L. Vicario
Summary: Thirteen new HLA alleles have been identified in the Spanish population.
Article
Cardiac & Cardiovascular Systems
Carlos M. M. Mery, Andrew Well, Kate Taylor, Kathleen Carberry, Jose Colucci, Christopher Ulack, Adam Zeiner, Michelle Mizrahi, Eileen Stewart, Christine Dillingham, Taylor Cook, Arotin Hartounian, Elizabeth McCullum, Jeremy T. T. Affolter, Heather Van Diest, Alexandra Lamari-Fisher, Stacey Chang, Scott Wallace, Elizabeth Teisberg, Charles D. D. Fraser Jr
Summary: This study provides a comprehensive understanding of the lifetime journey of individuals with single-ventricle congenital heart disease and their families. The most meaningful outcomes to patients and parents were identified, along with significant gaps in care. By addressing these gaps and redesigning care around their needs and priorities, we can improve outcomes for these patients and their families.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Pediatrics
Hammal Khan, Abdullah, Sohail Ahmed, Sadia Nawaz, Wasim Ahmad, Muhammad Arshad Rafiq
Summary: This study reports clinical and molecular study of 3 families with GCPS in Pakistan, revealing two novel variants and one previously reported variant in GLI3. The findings expand the mutations spectrum in GLI3 and highlight phenotypic variability in GCPS patients. This will aid in diagnosis and genetic counseling for families with similar disorders in the Pakistani population.
KLINISCHE PADIATRIE
(2021)
Review
Biochemistry & Molecular Biology
Michela Menghi, Ginevra Micangeli, Francesca Tarani, Carolina Putotto, Federica Pirro, Alessandro Mariani, Carla Petrella, Federica Pulvirenti, Bianca Cinicola, Fiorenza Colloridi, Luigi Tarani, Marco Fiore
Summary: DiGeorge syndrome (DGS) is a rare genetic disease caused by microdeletions of the 22q11.2 region, leading to various clinical manifestations including immune deficiency, cardiac malformations, hypoparathyroidism, facial and palatine abnormalities, cognitive impairment, and psychiatric disorders. This study aims to discuss the correlation between oxidative stress and neuroinflammation in DGS patients with microdeletions of the 22q11.2 region.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Kemelly Karolliny Moreira Resende, Margot Charlotte Riou, Paulo Marcio Yamaguti, Benjamin Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Rufino Felizardo, Juliana Forte Mazzeu, Valerie Cormier-Daire, Celine Gaucher, Ana Carolina Acevedo, Muriel de la Dure-molla
Summary: Amelogenesis imperfecta (AI) is a rare genetic condition characterized by enamel alterations in the teeth. Recent research has identified five disease-causing variants in the RELT gene, which is expressed during tooth development but its function is still unknown. This study reports new variants in the RELT gene and expands our understanding of the dental phenotypes associated with ARAI.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Lianhua Sun, Zhengyu Lin, Xiaowen Wang, Jiali Shen, Yue Li, Yuyu Huang, Jun Yang
Summary: Hearing loss is a common congenital disease, with genetic defects being the main cause of non-syndromic hearing loss. This study identified several gene mutations associated with Chinese Han deafness families, providing further insights into the pathogenic causes of hearing loss patients negative for GJB2, SLC26A4, and mitochondrial 12S rRNA.
FRONTIERS IN NEUROLOGY
(2022)
Article
Chemistry, Multidisciplinary
Teng Zhang, Christopher E. Shuck, Kateryna Shevchuk, Mark Anayee, Yury Gogotsi
Summary: Layered MAX phases and MXenes derived from them have been synthesized to expand the variety of known materials. The synthesis of three families of titanium carbonitride Tin+1Al(C1-y N-y ) n MAX phases and Tin+1(C1-y Ny )(n)T-x MXenes with different 2D layer thicknesses greatly expands the range of materials. The relationship among the composition, structure, stability, and synthesis conditions of the MXenes and their respective Al-based MAX phases has been investigated. These materials will enable fundamental studies of their properties and applications.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(2023)
Article
Public, Environmental & Occupational Health
Kriss Fearon
Summary: This article discusses the influence of Turner Syndrome (TS) on women's reproductive capacity and social timing, presenting findings on TS and reproductive choices based on interviews with women with TS and mothers of girls with TS. It explores how individuals with TS and their mothers experience temporal misfitting due to childhood infertility diagnosis and manage this to minimize stigma. The article applies disability studies concepts to improve understanding of the lived experience of women with TS and their use of reproductive technologies.
SOCIAL SCIENCE & MEDICINE
(2023)
Review
Psychiatry
Mostafa Mardani, Fardin Alipour, Hassan Rafiey, Masoud Fallahi-Khoshknab, Maliheh Arshi
Summary: This systematic review explores the challenges and issues that addiction-affected families face, revealing significant negative consequences on their personal, familial, and social lives. The findings identify several key themes, including initial shock, family in the fog, sequence of disorders, internal family chaos, and self-protection.
Article
Biotechnology & Applied Microbiology
Bikas K. Arya, Tila Khan, Ranjan Saurav Das, Rajlakshmi Guha, Sangeeta Das Bhattacharya
Summary: The study found that children from HIV-affected families faced barriers to vaccination, especially when the mother was HIV-positive, which increased the risk of missed vaccinations. However, local vaccination centers and outreach workers played a key role in increasing vaccine uptake.
HUMAN VACCINES & IMMUNOTHERAPEUTICS
(2021)
Article
Psychiatry
Shangzhong Li, Lynn E. DeLisi, Stefan McDonough
Summary: An extensive study analyzed whole genome sequences of 61 affected individuals from 15 families, revealing that most schizophrenia polygenic risk scores fell within the control range, while very rare damaging variants in certain candidate disease-related genes were found in six families, indicating their potential contributions to the heritability of schizophrenia.
PSYCHIATRY RESEARCH
(2021)
