A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_sessionjtv8t88g8dioh25hub6fv1d39g5cmaup): Failed to open stream: No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 177

Backtrace:

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

A PHP Error was encountered

Severity: Warning

Message: session_start(): Failed to read session data: user (path: /var/lib/php/sessions)

Filename: Session/Session.php

Line Number: 137

Backtrace:

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

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases. | LitMetric

AI Article Synopsis

  • A study was conducted on 1,180 Korean patients with neurological symptoms using whole exome sequencing to understand the genetic basis of diseases, revealing a diagnostic yield of about 50.8%.
  • Among diagnosed patients, 33.4% had inherited variants, with autosomal recessive genes linked to specific pathways like metabolism and muscle organization.
  • The findings also indicate that recessive genes show different expression patterns and tolerance to variation compared to dominant genes, suggesting distinct molecular mechanisms for neurodevelopmental disorders based on inheritance.

Article Abstract

Despite recent advancements in our understanding of genetic etiology and its molecular and physiological consequences, it is not yet clear what genetic features determine the inheritance pattern of a disease. To address this issue, we conducted whole exome sequencing analysis to characterize genetic variants in 1,180 Korean patients with neurological symptoms. The diagnostic yield for definitive pathogenic variant findings was 50.8%, after including 33 cases (5.9%) additionally diagnosed by reanalysis. Of diagnosed patients, 33.4% carried inherited variants. At the genetic level, autosomal recessive-inherited genes were characterized by enrichments in metabolic process, muscle organization and metal ion homeostasis pathways. Transcriptome and interactome profiling analyses revealed less brain-centered expression and fewer protein-protein interactions for recessive genes. The majority of autosomal recessive genes were more tolerant of variation, and functional prediction scores of recessively-inherited variants tended to be lower than those of dominantly-inherited variants. Additionally, we were able to predict the rates of carriers for recessive variants. Our results showed that genes responsible for neurodevelopmental disorders harbor different molecular mechanisms and expression patterns according to their inheritance patterns. Also, calculated frequency rates for recessive variants could be utilized to pre-screen rare neurodevelopmental disorder carriers.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9533195PMC
http://dx.doi.org/10.3389/fgene.2022.990015DOI Listing

Publication Analysis

Top Keywords

inheritance pattern
8
rare neurodevelopmental
8
recessive genes
8
recessive variants
8
variants
6
genes
5
systematic analysis
4
analysis inheritance
4
pattern determination
4
determination genes
4

Similar Publications

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in , with disease severity influenced by the number of copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosis still presents challenges. We present a case series illustrating the variable clinical presentations and diagnostic complexities of spinal muscular atrophy (SMA).

View Article and Find Full Text PDF

Meta-assembly of genomic associations to identify cattle fat depot candidate genes and pleiotropic effects.

BMC Genomics

December 2024

School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy Campus, Roseworthy, South Australia, 5371, Australia.

Background: Fat traits in cattle are considered important due to their contribution to beef eating quality and carcass economic value. Discovering the genes controlling fat traits in cattle will enable better selection of these traits, but identifying these genes in individual experiments has proven difficult. Compared to individual experiments, meta-analyses allow greater statistical power for detecting quantitative trait loci and identifying genes that influence single and multiple economically important fat traits.

View Article and Find Full Text PDF

The mutation of ent-kaurenoic acid oxidase, a key enzyme involved in gibberellin biosynthesis, confers a dwarf phenotype to cucumber.

Theor Appl Genet

December 2024

State Key Laboratory of Crop Genetics and Germplasm Enhancement, College of Horticulture, Nanjing Agricultural University, Weigang Street No.1, Nanjing, 210095, China.

A dwarf mutant with short branches (csdf) was identified from EMS-induced mutagenesis. Bulked segregant analysis sequencing and map-based cloning revealed CsKAO encoding ent-kaurenoic acid oxidase as the causal gene. Plant architecture is the primary target of artificial selection during domestication and improvement based on the determinate function for fruit yield.

View Article and Find Full Text PDF

Mechanisms of Inheritance of Chromatin States: From Yeast to Human.

Annu Rev Biophys

December 2024

Department of Biochemistry and Biophysics, University of California, San Francisco, California, USA; email:

In this article I review mechanisms that underpin epigenetic inheritance of CpG methylation and histone H3 lysine 9 methylation (H3K9me) in chromatin in fungi and mammals. CpG methylation can be faithfully inherited epigenetically at some sites for a lifetime in vertebrates and, remarkably, can be propagated for millions of years in some fungal lineages. Transmission of methylation patterns requires maintenance-type DNA methyltransferases (DNMTs) that recognize hemimethylated CpG DNA produced by replication.

View Article and Find Full Text PDF

Age at onset mediates genetic impact on disease severity in facioscapulohumeral muscular dystrophy.

Brain

December 2024

Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou 350005, China.

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) patients exhibit marked variability in both age at onset (AAO) and disease severity. Early onset FSHD1 patients are at an increased risk of severe weakness, and early onset has been tentatively linked to the length of D4Z4 repeat units (RUs) and methylation levels. The present study explored potential relationships among genetic characteristics, AAO and disease severity in FSHD1.

View Article and Find Full Text PDF

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!