Diagnostic Test for Cornelia de Lange Syndrome (CdLS)

Description:

Identify Patients and Carriers of CdLS

 

Market Need

 

The Cornelia de Lange syndrome (CdLS) is a dominantly inherited multisystem developmental disorder that includes growth and cognitive retardation, upper extremity abnormalities, gastroesophageal dysfunction, cardiac ophthalmologic genitourinary anomalies, hirsutism and characteristic facial features. Many patients also demonstrate autistic behavior, including self-injurious tendencies. Prevalence is estimated to be as high as 1 in 10,000. Diagnosis and counseling for CdLS has been complicated by phenotypic variability and lack of a definitive diagnostic marker.

 

Technology Overview

 

Dr. Ian Krantz and his team discovered IDN3 as the causal gene responsible for CdLS, allowing a molecular diagnostic marker to be available to identify patients and carriers of this disease. Mutational analysis of the IDN3 gene will allow confirmation of diagnosis, identification of carriers amongst relatives of an affected individual and allow for genetic counseling about recurrence risks and prenatal diagnosis.

 

Advantages

•       Only genetic, diagnostic test to identify CdLS patients and carriers

Application

•       This diagnostic test can be used by genetic counseling services for prenatal diagnosis and confirmation of diagnosis of affected patients

 

Stage of Development: In vivo clinical proof-of-concept in 20 individuals.

 

Case ID:
0235-04-KRANTZ
Web Published:
5/9/2017
Patent Information:
Category(s):
Diagnostic
For Information, Contact:
Camille Jolly-Tornetta
Assistant Director
The Children's Hospital of Philadelphia
jollytornc@email.chop.edu
Inventors:
Ian Krantz
Keywords:
Cornelia de Lange Syndrome (CdLS)