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[Frameshift mutation in gene causes amelogenesis imperfecta].
Beijing Da Xue Xue Bao Yi Xue Ban
February 2025
Department of Cariology and Endodontology, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
Objective: To analyze gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta (AI) in China, and to study the relationship between its genotype and phenotype.
Methods: Clinical and radiological features were recorded for the affected individuals. Peripheral venous blood samples of the patient and family members were collected for further study, and the genomic DNA was extracted to identify the pathogenic gene.
Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Sci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
View Article and Find Full Text PDFPhenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Neurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFA Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.
J Endocr Soc
January 2025
Division of Pediatric Endocrinology, Hadassah Medical Center, Jerusalem 91240, Israel.
Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.
Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.
Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.
Case Report: A Novel Homozygous Variant in the Gene Causes Fanconi Anemia.
Genet Test Mol Biomarkers
January 2025
Department of Biology, University of Sistan and Baluchestan, Zahedan, Iran.
Fanconi anemia (FA) is a rare genetic disorder that affects multiple systems in the body and is the most prevalent congenital syndrome, leading to bone marrow failure. Twenty-two genes have been identified as contributors to the disease. Significant advancements have been made in the past 2 decades in understanding the genetic and pathophysiological processes involved.
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