Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. She was found to be homozygous for a novel nonsense variant p.Trp983Ter in MBTPS1. In addition, she had normal levels of lysosomal enzyme activity in leukocytes but elevated levels in plasma. Our description confirms the existence of this new skeletal dysplasia and expands the phenotype and genotype of the disease.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136467 | PMC |
| http://dx.doi.org/10.1002/ajmg.a.61614 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Fibromuscular Dysplasia Clinical Phenotype Manifesting as a Distal Spontaneous Coronary Artery Dissection in a Middle-Aged Man.
Cureus
January 2025
Internal Medicine, University of Florida College of Medicine, Gainesville, USA.
Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease of medium-sized arteries that causes abnormal cellular growth in arterial walls and most commonly affects young to middle-aged women (20-50 years of age). While FMD often involves the renal arteries, it can affect any arterial bed. FMD has a characteristic angiographic appearance of a "string of beads.
View Article and Find Full Text PDFCaspase-4 Has Potential Utility as a Colorectal Tissue Biomarker for Dysplasia and Early-Stage Cancer.
Gastro Hep Adv
September 2024
School of Biochemistry and Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.
Background And Aims: Colorectal cancer (CRC) is the second most deadly cancer globally. The rapidly rising incidence rate of CRC, coupled with increased diagnoses in individuals <50 years, indicates that early detection of CRC, and those at an increased risk of CRC development, is paramount to improve the survival rates of these patients. Here, we profile caspase-4 expression across 2 distinct CRC development pathways, sporadic CRC (sCRC) and inflammatory bowel disease-associated CRC (IBD-CRC), to examine its utility as a novel biomarker for CRC risk and diagnosis.
View Article and Find Full Text PDFClinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
Eur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFPosterior Reversible Encephalopathy Syndrome in the Context of McCune-Albright Syndrome: A Case Report.
Cureus
December 2024
Department of Neurology, 417 Army Share Fund Hospital, Athens, GRC.
Posterior reversible encephalopathy syndrome (PRES) is a clinical manifestation of various underlying causes, characterized by the combination of clinical and imaging findings associated with the posterior cerebral areas and relating to arterial hypertension and endothelial dysfunction. No association was made so far between PRES and McCune-Albright syndrome (MAS), a rare genetic disorder resulting in fibrous dysplasia. A 33-year-old female with MAS was presented to the emergency department of the 417 Army Share Fund Hospital in Athens (Greece) after seizure activity with two episodes of ocular upward deviation and transient facial palsy, each lasting a few minutes, followed by a postictal phase.
View Article and Find Full Text PDFResolution of oncogene-induced senescence markers in HPV-infected cervical cancer tissue.
BMC Cancer
January 2025
Department of Pharmacology and Public Health, Faculty of Medicine, The Hashemite University, Zarqa, 13133, Jordan.
Background: Oncogene-Induced Senescence (OIS) is a form of senescence that occurs as a consequence of oncogenic overstimulation and possibly infection by oncogenic viruses. Whether senescence plays a role in the pathogenesis of cervical cancer (CC) is not well understood. Moreover, whether cervical epithelial cells that are part of the premalignant cervical intraepithelial neoplasia (CIN), exhibit markers of OIS in Human Papillomavirus (HPV)-infected tissue, has not been investigated.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!