A PHP Error was encountered

Severity: Warning

Message: file_get_contents(https://...@gmail.com&api_key=61f08fa0b96a73de8c900d749fcb997acc09): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests

Filename: helpers/my_audit_helper.php

Line Number: 143

Backtrace:

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 143
Function: file_get_contents

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 209
Function: simplexml_load_file_from_url

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 3098
Function: getPubMedXML

File: /var/www/html/application/controllers/Detail.php
Line: 574
Function: pubMedSearch_Global

File: /var/www/html/application/controllers/Detail.php
Line: 488
Function: pubMedGetRelatedKeyword

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

A PHP Error was encountered

Severity: Warning

Message: Attempt to read property "Count" on bool

Filename: helpers/my_audit_helper.php

Line Number: 3100

Backtrace:

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 3100
Function: _error_handler

File: /var/www/html/application/controllers/Detail.php
Line: 574
Function: pubMedSearch_Global

File: /var/www/html/application/controllers/Detail.php
Line: 488
Function: pubMedGetRelatedKeyword

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

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies as a Functionally Relevant Candidate Gene. | LitMetric

AI Article Synopsis

  • Autism spectrum disorders (ASDs) have a strong genetic component, but many specific genetic factors remain unclear; this study aims to identify those factors in two ASD siblings from Sardinia.
  • The researchers used genome-wide copy number variation analysis and whole exome sequencing to discover a rare microdeletion and a frameshift mutation in key genes related to synaptic formation and function, revealing a potential genetic basis for their condition.
  • Their findings highlight specific candidate genes associated with ASD and emphasize the role of genes encoding postsynaptic density proteins in contributing to the disorder's susceptibility.

Article Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation analysis and whole exome sequencing (WES), to identify novel genetic alterations associated with this disorder. Single nucleotide polymorphism (SNP) array data revealed a rare microdeletion involving , and genes, in both siblings. encodes for a postsynaptic density (PSD) protein known to regulate spine morphogenesis and synaptic formation. The reduced mRNA and protein expression levels in ASD patients, in the presence of hemizygosity or a particular genetic and/or epigenetic background, highlighted the functional relevance of as a candidate gene for ASD. WES analysis led to the identification in both affected siblings of a rare frameshift mutation in , a gene intolerant to loss of function mutation, encoding for a voltage-dependent anion channel localized on PSD. Moreover, four missense damaging variants were identified in genes intolerant to loss of function variation encoding for PSD proteins: , , and . This study identifies and as candidate genes and provides additional support for genes encoding PSD proteins in ASD susceptibility.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406497PMC
http://dx.doi.org/10.3390/jcm8020212DOI Listing

Publication Analysis

Top Keywords

autism spectrum
8
candidate gene
8
intolerant loss
8
loss function
8
encoding psd
8
psd proteins
8
analysis sardinian
4
sardinian multiplex
4
multiplex family
4
family autism
4

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!

A PHP Error was encountered

Severity: Notice

Message: fwrite(): Write of 34 bytes failed with errno=28 No space left on device

Filename: drivers/Session_files_driver.php

Line Number: 272

Backtrace:

A PHP Error was encountered

Severity: Warning

Message: session_write_close(): Failed to write session data using user defined save handler. (session.save_path: /var/lib/php/sessions)

Filename: Unknown

Line Number: 0

Backtrace: