Featured Research

from universities, journals, and other organizations

New syndrome caused by mutations in AHDC1

Date:
May 1, 2014
Source:
Baylor College of Medicine
Summary:
The gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness, has been discovered by researchers. "Little is known about this gene and the discovery of its link to this syndrome is an important advance towards analyzing its function," said a corresponding author. "This study illustrates a remarkable confluence of advanced technical development, data sharing and detailed clinical studies."

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

The study published online today in the American Journal of Human Genetics.

The Baylor researchers first studied a patient from Australia with these symptoms who had been seen by many doctors and had multiple diagnostic tests, without any diagnosis.

Although there was no family history of the disease, the researchers performed DNA sequence analysis on the patient and her parents to determine if there was an underlying genetic cause for her symptoms.

The results showed damaging mutations had newly arisen in five genes in the patient when compared with the parents DNA sequence.

One gene was a candidate for causing the disease because similar mutations were never seen in healthy control individuals.

"This led us to ask if there were any other undiagnosed disease cases that had similar mutations in this gene," said Dr. Fan Xia, assistant professor of molecular and human genetics and in the Whole Genome Laboratory at Baylor and the first author on the report.

An examination of data from unsolved cases at Baylor's Whole Genome Laboratory revealed three such possibilities, Xia said.

The team then performed DNA sequencing on these patients and their parents.

"We found that these patients also had damaging mutations that had newly arisen in the same gene AHDC1," said Xia. "The independent occurrence of new mutations in each of these families is extremely strong evidence that this gene is the cause of this syndrome."

The mutations are in the 'AT-Hook binding DNA motif Containing' gene, AHDC1.

"Little is known about this gene and the discovery of its link to this syndrome is an important advance towards analyzing its function," said Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor and the corresponding author on the report.

Checking the clinical records of the four patients showed an unrealized similarity between the symptoms of each patient. The DNA discovery had therefore brought together patients from Australia, Pennsylvania and two different cities in Texas.

"This study illustrates a remarkable confluence of advanced technical development, data sharing and detailed clinical studies," said Gibbs. "We have simultaneously provided answers for the affected families and advanced an important basic research question."

The researchers noted that the frequency of this syndrome is not yet known, but extrapolating from the Baylor Whole Genome Laboratory suggests that there could be hundreds of affected individuals worldwide.


Story Source:

The above story is based on materials provided by Baylor College of Medicine. The original article was written by Glenna Picton. Note: Materials may be edited for content and length.


Journal Reference:

  1. Fan Xia et al. De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea. American Journal of Human Genetics, May 2014 DOI: 10.1016/j.ajhg.2014.04.006

Cite This Page:

Baylor College of Medicine. "New syndrome caused by mutations in AHDC1." ScienceDaily. ScienceDaily, 1 May 2014. <www.sciencedaily.com/releases/2014/05/140501123455.htm>.
Baylor College of Medicine. (2014, May 1). New syndrome caused by mutations in AHDC1. ScienceDaily. Retrieved September 18, 2014 from www.sciencedaily.com/releases/2014/05/140501123455.htm
Baylor College of Medicine. "New syndrome caused by mutations in AHDC1." ScienceDaily. www.sciencedaily.com/releases/2014/05/140501123455.htm (accessed September 18, 2014).

Share This



More Health & Medicine News

Thursday, September 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Artificial Sweetener Could Promote Diabetes

Artificial Sweetener Could Promote Diabetes

Newsy (Sep. 17, 2014) Doctors once thought artificial sweeteners lacked the health risks of sugar, but a new study says they can impact blood sugar levels the same way. Video provided by Newsy
Powered by NewsLook.com
Ebola Vaccine Trial Gets Underway at Oxford University

Ebola Vaccine Trial Gets Underway at Oxford University

AFP (Sep. 17, 2014) A healthy British volunteer is to become the first person to receive a new vaccine for the Ebola virus after US President Barack Obama called for action against the epidemic and warned it was "spiralling out of control." Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Obesity Rates Steady Even As Americans' Waistlines Expand

Obesity Rates Steady Even As Americans' Waistlines Expand

Newsy (Sep. 17, 2014) Researchers are puzzled as to why obesity rates remain relatively stable as average waistlines continue to expand. Video provided by Newsy
Powered by NewsLook.com
President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins