Genetics Studies of Moebius Syndrome

ID Number 08-0512

Principal Investigator(s)
Ethylin Wang Jabs

Department(s) or Division(s)
Genetics and Genomic Sciences

Description

The purpose of the study is to identify the genetic factors that cause Moebius syndrome, a rare congenital disorder defined by partial or complete agenesis of the 6th and 7th cranial nerves, which control eye movements and facial expression. Our research group 1) ascertains clinical and lifestyle information, DNA samples, and storage of cell lines from moebius syndrome patients and their families; 2) analyzes the clinical information for frequency of clinical features and environmental factors; 3) screens patients for chromosomal and submicroscopic abnormalities; 4) screens DNA samples for mutations in candidate genes such as HOXB1, HOXB2, SOX14, EGR2, PHOX2A, KROX20; and 5) if sufficient families with more than one affected individual are found, then possibly linkage analysis can be performed.



Contact Information
Ethylin Wang Jabs
(212) 241-3504
ethylin.jabs@mssm.edu


Recruiting Patients: Yes