Cornelia De Lange Syndrome News and Research

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Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.

Cornelia de Lange syndrome is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, abnormalities involving the arms and hands, and distinctive facial features. The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. Many affected individuals also have behavior problems similar to autism, a developmental condition that affects communication and social interaction.

Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hirsutism), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, eye problems, and skeletal abnormalities also have been reported in people with this condition.

Study illuminates how BRD4 protein directs the spatial organization of DNA within cell nucleus

New research is advancing understanding of certain cancers and complex congenital disorders by illuminating how BRD4, a protein that scientists have studied for years, directs the spatial organization of DNA within the nucleus of the cell, a function critical for stem cell differentiation into muscle cells.

7 Oct 2021

Severe cortical damage associated with COVID-19 case report

In December 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began to cause a flu-like infection in people living in Wuhan, China.

10 Dec 2020

Persistent DNA damage in the placenta can affect embryonic growth

Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome.

16 Jun 2020

DNA discovery could help point towards causes of developmental condition in children

New insights into how our cells store and manage DNA during cell division could help point towards the causes of a rare developmental condition.

21 Sep 2017

New zebrafish study provides insights into causes of congenital heart defects

Researchers working with zebrafish at New Zealand's University of Otago have published a study providing new insights into the causes of the congenital heart defects associated with a rare developmental disorder.

16 Oct 2015

Novel Cornelia de Lange syndrome gene discovered

Scientists have discovered that mutations in the histone deacetylase 8 gene can cause the rare genetic disorder known as Cornelia de Lange syndrome, which is characterized by intellectual disability, limb deformity, and other disabilities resulting from problems in early development.

13 Aug 2012

Researchers identify new gene in Cornelia deLange syndrome

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development.

13 Aug 2012

HDAC8 gene mutations cause Cornelia deLange syndrome

13 Aug 2012

Researchers uncover insights into rare genetic disorders

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a bracelet that encircles chromosome pairs, scientists have discovered mutations that disrupt cohesin, causing a recently recognized class of diseases called cohesinopathies.

30 May 2012

Researchers identify new functions of cohesin SA1 that are relevant for cancer and CdLS

Cohesin is a ring-shaped protein complex involved in the spatial organization of the genome and in mitotic chromosome structure. Vertebrate somatic cells have two versions of cohesin that contain either SA1 or SA2, but their functional specificity has been largely ignored. Researchers of the Spanish National Cancer Research Centre (CNIO) under the direction of Ana Losada have identified new functions of cohesin SA1 that are relevant for two human diseases, cancer and Cornelia de Lange Syndrome.

4 May 2012

Deficiencies in DNA loop formation can cause multiple diseases: Research

The genes that are responsible for maintaining each cell type form DNA loops that link control elements for these genes. This surprising genome structure is generated and reinforced by two essential protein complexes that bridge the loops and contribute to proper gene regulation.

19 Aug 2010

Study: Common underlying mechanism causes complex defects in brain development and function

A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Rett syndrome (RTT), Cornelia de Lange syndrome (CdLS) and Alpha-Thalassemia mental Retardation, X-linked syndrome (ATR-X) have each been linked with distinct abnormalities in chromatin, the spools of proteins and DNA that make up chromosomes and control how genetic information is read in a cell.

16 Feb 2010

Cohesin protein disrupts gene function in Cornelia deLange syndrome

An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans.

26 May 2009

Gene found for Cornelia deLange syndrome

Studying mutations that give rise to a rare genetic disease, genetics researchers have identified a novel biological pathway that may have a broader role during human development, potentially in cases of mental retardation and autism.

5 Feb 2007

Cornelia de Lange syndrome gene discovered

An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children.

20 Jun 2004

Discovery of the gene for Cornelia de Lange syndrome

An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children. The finding is expected to lead to a genetic test, enabling rapid and definitive diagnosis of the syndrome, as well as prenatal testing for families who already have one child with the disease.

17 May 2004