Open AccessA previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family
Author(s) -
Jing Liu,
Yanlei Jia,
Lejin Wang,
Juan Bu
Publication year - 2016
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/0301-4738.195593
Subject(s) - exon , moesin , point mutation , genetics , gene , mutation , nystagmus , radixin , medicine , microbiology and biotechnology , ezrin , polymerase chain reaction , biology , radiology , cytoskeleton , cell
Congenital nystagmus (CN) is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN.