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Severe neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.
JIMD Rep
January 2025
The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences Ben Gurion University Beer-Sheva Israel.
The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFNationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.
Hum Genomics
December 2024
Genetic Medicine Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Background: Consanguineous marriage is a major contributing factor for many genetic diseases and a burden to the healthcare system and national economy due to costly long-term care. Earlier studies highlighted the significantly limited awareness of the higher prevalence of genetic disease due to consanguinity even among the educated Arabs. In Saudi Arabia, more than 50% of marriages are between first cousins.
View Article and Find Full Text PDFThe distribution of regions of homozygosity (ROH) among consanguineous populations-implications for a routine genetic counseling service.
J Hum Genet
November 2024
Genetics Institute, Emek Medical Center, Afula, Israel.
Regions of homozygosity (ROH) increase the risk of recessive disorders, and guidelines recommend reporting of excessive ROH in prenatal testing. However, ROH are common in populations that practice endogamy or consanguinity, and cutoffs for reporting ROH in such populations may not be evidence-based. We reviewed prenatal testing results (based on cytogenetic microarrays) from 2191 pregnancies in the Jewish and non-Jewish populations of Northern Israel and estimated the prevalence of ROH according to self-reported ethnicity and parental relationships.
View Article and Find Full Text PDFRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.
Appl Clin Genet
October 2024
College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Article Synopsis
- Consanguinity, common in Saudi Arabia, significantly affects genetic disorders, with 64% of 1100 patients in a study being related by blood.
- The study, conducted at King Abdullah Specialized Children Hospital from 2020 to 2022, found a 45% diagnostic rate for genetic conditions, primarily using whole exome sequencing.
- The results emphasize the high prevalence of related marriages and highlight a common neurodevelopmental issue, underlining the need for understanding genetic risks in this population.
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