A PHP Error was encountered

Severity: Warning

Message: fopen(/var/lib/php/sessions/ci_session9h2e048obl2gumnuognks4odvlatfasu): 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

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: 994
Function: getPubMedXML

File: /var/www/html/application/helpers/my_audit_helper.php
Line: 3134
Function: GetPubMedArticleOutput_2016

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

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. | LitMetric

AI Article Synopsis

  • - The study focuses on the use of array-CGH to identify new gene syndromes linked to intellectual disabilities by analyzing gene deletions, specifically looking at overlapping deletions on chromosome 9q33.3q34.11.
  • - Researchers collaborated internationally to examine four patients with specific deletions, primarily involving genes STXBP1, LMX1B, and ENG, which are known to cause recognizable clinical effects when only one copy is present.
  • - Common symptoms observed in the patients included intellectual disability, epilepsy, nail dysplasia, bone malformations, and specific facial features, underscoring the need for personalized medical follow-up for related health complications.

Article Abstract

The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1B deletion, epistaxis and cutaneous-mucous telangiectasias explained by ENG haploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867444PMC
http://dx.doi.org/10.1038/ejhg.2015.202DOI Listing

Publication Analysis

Top Keywords

contiguous gene
8
gene syndrome
8
stxbp1 lmx1b
8
lmx1b eng
8
eng genes
8
reverse phenotyping
8
intellectual disability
8
genes
5
9q333q3411 microdeletion
4
microdeletion contiguous
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!