A PHP Error was encountered

Severity: Warning

Message: file_get_contents(https://...@pubfacts.com&api_key=b8daa3ad693db53b1410957c26c9a51b4908&a=1): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests

Filename: helpers/my_audit_helper.php

Line Number: 176

Backtrace:

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 176
Function: file_get_contents

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 250
Function: simplexml_load_file_from_url

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 3122
Function: getPubMedXML

File: /var/www/html/application/controllers/Detail.php
Line: 575
Function: pubMedSearch_Global

File: /var/www/html/application/controllers/Detail.php
Line: 489
Function: pubMedGetRelatedKeyword

File: /var/www/html/index.php
Line: 316
Function: require_once

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent Gene Variant. | LitMetric

AI Article Synopsis

  • Calvarial doughnut lesions (CDL) with bone fragility is a rare genetic disorder marked by low bone mineral density and specific lesions in cranial bones, often leading to fractures.
  • This condition is caused by mutations in the gene that produces sphingomyelin synthase 2, which is vital for bone mineralization.
  • Recent studies have identified a common mutation (c.148C>T) associated with CDL in multiple cases, revealing significant variability in symptoms among affected individuals, underscoring the importance of genetic testing for accurate diagnosis.

Article Abstract

Calvarial doughnut lesions (CDL) with bone fragility with or without spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant skeletal disorder characterized by low bone mineral density, spinal and peripheral fractures, and specific sclerotic lesions of the cranial bones. In the current classification of skeletal disorders, the disease is included in the group of bone fragility disorders along with osteogenesis imperfecta. The disease is caused by pathogenic variants in the gene, the protein product of which is sphingomyelin synthase 2, which primarily contributes to sphingomyelin (SM) synthesis-the main lipid component of the plasma membrane essential for bone mineralization. To date, 15 patients from eight families with CDL with bone fragility have been described in the literature, and a recurrent variant c.148C>T (p.Arg50Ter) in the gene has been identified, which was found in patients from six families. We diagnosed the disease in 11 more patients from three unrelated families, caused by the same heterozygous nonsense variant c.148C>T (p.Arg50Ter) in the gene. Our results show wide interfamilial and intrafamilial phenotypic variability in patients with a detected recurrent variant in the gene, the presence of which must be taken into consideration in the diagnosis of the disease. The primary analysis of this variant will contribute to optimal molecular genetic diagnostics, which can reduce diagnostic costs and time.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178575PMC
http://dx.doi.org/10.3390/ijms24098021DOI Listing

Publication Analysis

Top Keywords

bone fragility
16
calvarial doughnut
8
doughnut lesions
8
cdl bone
8
patients families
8
recurrent variant
8
variant c148c>t
8
c148c>t parg50ter
8
parg50ter gene
8
bone
6

Similar Publications

Want 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!